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1. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

Author

De Keulenaer Sarah, Hellemans Jan, Lefever Steve, Renard Jean-Pierre, De Schrijver Joachim, Van de Voorde Hendrik, Tabatabaiefar Mohammad, Van Nieuwerburgh Filip, Flamez Daisy, Pattyn Filip, Scharlaken Bieke, Deforce Dieter, Bekaert Sofie, Van Criekinge Wim, Vandesompele Jo, Van Camp Guy, and Coucke Paul

Subjects
Deafness, Next generation sequencing, PCR based enrichment, Genetic diagnostics, Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Hereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60). Next generation sequencing technology (NGS) has the potential to be much more cost efficient. Published methods mainly use hybridization based target enrichment procedures that are time saving and efficient, but lead to loss in sensitivity. In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency. Results In this proof of concept study, we screened 15 autosomal recessive deafness genes in 5 patients with congenital genetic deafness. 646 specific primer pairs for all exons and most of the UTR of the 15 selected genes were designed using primerXL. Using patient specific identifiers, all amplicons were pooled and analyzed using the Roche 454 NGS technology. Three of these patients are members of families in which a region of interest has previously been characterized by linkage studies. In these, we were able to identify two new mutations in CDH23 and OTOF. For another patient, the etiology of deafness was unclear, and no causal mutation was found. In a fifth patient, included as a positive control, we could confirm a known mutation in TMC1. Conclusions We have developed an assay that holds great promise as a tool for screening patients with familial autosomal recessive nonsyndromal hearing loss (ARNSHL). For the first time, an efficient, reliable and cost effective genetic test, based on PCR enrichment, for newborns with undiagnosed deafness is available.

Published
2012
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2. Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

Author

Deforce Dieter, Coucke Paul, Van Nieuwerburgh Filip, Pattyn Filip, Sabbe Nick, Lefever Steve, De Leeneer Kim, De Schrijver Joachim M, Vandesompele Jo, Bekaert Sofie, Hellemans Jan, and Van Criekinge Wim

Subjects
Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
Abstract

Abstract Background Next-generation amplicon sequencing enables high-throughput genetic diagnostics, sequencing multiple genes in several patients together in one sequencing run. Currently, no open-source out-of-the-box software solution exists that reliably reports detected genetic variations and that can be used to improve future sequencing effectiveness by analyzing the PCR reactions. Results We developed an integrated database oriented software pipeline for analysis of 454/Roche GS-FLX amplicon resequencing experiments using Perl and a relational database. The pipeline enables variation detection, variation detection validation, and advanced data analysis, which provides information that can be used to optimize PCR efficiency using traditional means. The modular approach enables customization of the pipeline where needed and allows researchers to adopt their analysis pipeline to their experiments. Clear documentation and training data is available to test and validate the pipeline prior to using it on real sequencing data. Conclusions We designed an open-source database oriented pipeline that enables advanced analysis of 454/Roche GS-FLX amplicon resequencing experiments using SQL-statements. This modular database approach allows easy coupling with other pipeline modules such as variant interpretation or a LIMS system. There is also a set of standard reporting scripts available.

Published
2010
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3. ZnT3 mRNA levels are reduced in Alzheimer's disease post-mortem brain

Author

Irvine G Brent, Ravid Rivka, Heggarty Shirley, Coulson David TR, Beyer Nancy, Hellemans Jan, and Johnston Janet A

Subjects
Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
Abstract

Abstract Background ZnT3 is a membrane Zn2+ transporter that is responsible for concentrating Zn2+ into neuronal presynaptic vesicles. Zn2+ homeostasis in the brain is relevant to Alzheimer's disease (AD) because Zn2+ released during neurotransmission may bind to Aβ peptides, accelerating the assembly of Aβ into oligomers which have been shown to impair synaptic function. Results We quantified ZnT3 mRNA levels in Braak-staged human post mortem (pm) brain tissue from medial temporal gyrus, superior occipital gyrus, superior parietal gyrus, superior frontal gyrus and cerebellum from individuals with AD (n = 28), and matched controls (n = 5) using quantitative real-time PCR. ZnT3 mRNA levels were significantly decreased in all four cortical regions examined in the AD patients, to 45-60% of control levels. This reduction was already apparent at Braak stage 4 in most cortical regions examined. Quantification of neuronal and glial-specific markers in the same samples (neuron-specific enolase, NSE; and glial fibrillary acidic protein, GFAP) indicated that loss of cortical ZnT3 expression was more pronounced, and occurred prior to, significant loss of NSE expression in the tissue. Significant increases in cortical GFAP expression were apparent as the disease progressed. No gene expression changes were observed in the cerebellum, which is relatively spared of AD neuropathology. Conclusions This first study to quantify ZnT3 mRNA levels in human pm brain tissue from individuals with AD and controls has revealed a significant loss of ZnT3 expression in cortical regions, suggesting that neuronal cells in particular show reduced expression of ZnT3 mRNA in the disease. This suggests that altered neuronal Zn2+ handling may be an early event in AD pathogenesis.

Published
2009
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7. Disclosing quantitative RT‐PCR raw data during manuscript submission: a call for action

Author

Untergasser, Andreas, Hellemans, Jan, Pfaffl, Michael W., Ruijter, Jan M., van den Hoff, Maurice J. B., Dragomir, Mihnea P., Adamoski, Douglas, Dias, Sandra Martha Gomes, Reis, Rui Manuel, Ferracin, Manuela, Dias‐Neto, Emmanuel, Marsh, Ian, Kubista, Mikael, Fabbri, Muller, Goel, Ajay, Slabý, Ondřej, Knutsen, Erik, Chen, Baoqing, Negrini, Massimo, Mimori, Koshi, Pichler, Martin, Papatriantafyllou, Maria, Anfossi, Simone, Schmittgen, Thomas D., Huggett, Jim, Bustin, Stephen, Vandesompele, Jo, Calin, George A., Medical Biology, ACS - Heart failure & arrhythmias, and ARD - Amsterdam Reproduction and Development

Subjects
Cancer Research, Oncology, accuracy, RT-qPCR, Genetics, Molecular Medicine, RNA, General Medicine, ddc:610, quantification
Abstract

Accuracy and transparency of scientific data are becoming more and more relevant with the increasing concern regarding the evaluation of data reproducibility in many research areas. This concern is also true for quantifying coding and noncoding RNAs, with the remarkable increase in publications reporting RNA profiling and sequencing studies. To address the problem, we propose the following recommendations: (a) accurate documentation of experimental procedures in Materials and methods (and not only in the supplementary information, as many journals have a strict mandate for making Materials and methods as visible as possible in the main text); (b) submission of RT-qPCR raw data for all experiments reported; and (c) adoption of a unified, simple format for submitted RT-qPCR raw data. The Real-time PCR Data Essential Spreadsheet Format (RDES) was created for this purpose.

Published
2023

8. Consensus guidelines for the validation of qRT-PCR assays in clinical research by the CardioRNA consortium

Author

EU-CardioRNA COST Action CA17129, de Gonzalo-Calvo, David, Marchese, Monica, Hellemans, Jan, Lakkisto, Päivi, Devaux, Yvan, HUSLAB, Department of Clinical Chemistry and Hematology, and University of Helsinki

Subjects
RNA, 3111 Biomedicine
Abstract

Despite promising findings, quantitative PCR (qPCR)-based tests for RNA quantification have experienced serious limitations in their clinical application. The noticeable lack of technical standardization remains a huge obstacle in the translation of qPCR-based tests. The incorporation of qPCR-based tests into the clinic will benefit from guidelines for clinical research assay validation. This will ultimately impact the clinical management of the patient, including diagnosis, prognosis, prediction, monitoring of the therapeutic response, and evaluation of toxicity. However, clear assay validation protocols for biomarker investigation in clinical trials using molecular assays are currently lacking. Here, we will focus on the necessary steps, including sample acquisition, processing and storage, RNA purification, target selection, assay design, and experimental design, that need to be taken toward the appropriate validation of qRT-PCR assays in clinical research. These recommendations can fill the gap between research use only (RUO) and in vitro diagnostics (IVD). Our contribution provides a tool for basic and clinical research for the development of validated assays in the intermediate steps of biomarker research. These guidelines are based on the current understanding and consensus within the EU-CardioRNA COST Action consortium (www. cardiorna.eu). Their applicability encompasses all clinical areas.

Published
2022

9. Reliable and Scalable SARS-CoV-2 qPCR Testing at a High Sample Throughput: Lessons Learned from the Belgian Initiative

Author

Van Vooren, Steven, Grayson, James, Van Ranst, Marc, Dequeker, Elisabeth, Laenen, Lies, Janssen, Reile, Gillet, Laurent, Bureau, Fabrice, Coppieters, Wouter, Devos, Nathalie, Hengchen, Benjamin, Wattiau, Pierre, Méhauden, Sibylle, Verlinden, Yvan, Van Baelen, Kurt, Pattery, Theresa, Valentin, Jean Pierre, Janssen, Kris, Geraerts, Martine, Smeraglia, John, Hellemans, Jan, Wytynck, Pieter, Mestdagh, Pieter, Besbrugge, Nienke, Höfer, René, Nollet, Friedel, Vandesompele, Jo, De Smet, Pieter, Lebon, John, Vandewynckele, Emmanuel, Verstrepen, Steven, Uten, Wouter, Capron, Arnaud, Malonne, Hugues, Poels, Jeroen, André, Emmanuel, Van Vooren, Steven, Grayson, James, Van Ranst, Marc, Dequeker, Elisabeth, Laenen, Lies, Janssen, Reile, Gillet, Laurent, Bureau, Fabrice, Coppieters, Wouter, Devos, Nathalie, Hengchen, Benjamin, Wattiau, Pierre, Méhauden, Sibylle, Verlinden, Yvan, Van Baelen, Kurt, Pattery, Theresa, Valentin, Jean Pierre, Janssen, Kris, Geraerts, Martine, Smeraglia, John, Hellemans, Jan, Wytynck, Pieter, Mestdagh, Pieter, Besbrugge, Nienke, Höfer, René, Nollet, Friedel, Vandesompele, Jo, De Smet, Pieter, Lebon, John, Vandewynckele, Emmanuel, Verstrepen, Steven, Uten, Wouter, Capron, Arnaud, Malonne, Hugues, Poels, Jeroen, and André, Emmanuel

Abstract

We present our approach to rapidly establishing a standardized, multi-site, nation-wide COVID-19 screening program in Belgium. Under auspices of a federal government Task Force responsible for upscaling the country’s testing capacity, we were able to set up a national testing initiative with readily available resources, putting in place a robust, validated, high-throughput, and decentralized qPCR molecular testing platform with embedded proficiency testing. We demonstrate how during an acute scarcity of equipment, kits, reagents, personnel, protective equipment, and sterile plastic supplies, we introduced an approach to rapidly build a reliable, validated, high-volume, highconfidence workflow based on heterogeneous instrumentation and diverse assays, assay components, and protocols. The workflow was set up with continuous quality control monitoring, tied together through a clinical-grade information management platform for automated data analysis, real-time result reporting across different participating sites, qc monitoring, and making result data available to the requesting physician and the patient. In this overview, we address challenges in optimizing high-throughput cross-laboratory workflows with minimal manual intervention through software, instrument and assay validation and standardization, and a process for harmonized result reporting and nation-level infection statistics monitoring across the disparate testing methodologies and workflows, necessitated by a rapid scale-up as a response to the pandemic., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2022

11. Consensus guidelines for the validation of qRT-PCR assays in clinical research by the CardioRNA consortium

Author

de Gonzalo-Calvo, David, primary, Marchese, Monica, additional, Hellemans, Jan, additional, Betsou, Fay, additional, Skov Frisk, Nanna Lond, additional, Dalgaard, Louise Torp, additional, Lakkisto, Päivi, additional, Foy, Carole, additional, Scherer, Andreas, additional, Garcia Bermejo, María Laura, additional, and Devaux, Yvan, additional

Published
2022
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14. Reliable and Scalable SARS-CoV-2 qPCR Testing at a High Sample Throughput: Lessons Learned from the Belgian Initiative

Author

Van Vooren, Steven, primary, Grayson, James, additional, Van Ranst, Marc, additional, Dequeker, Elisabeth, additional, Laenen, Lies, additional, Janssen, Reile, additional, Gillet, Laurent, additional, Bureau, Fabrice, additional, Coppieters, Wouter, additional, Devos, Nathalie, additional, Hengchen, Benjamin, additional, Wattiau, Pierre, additional, Méhauden, Sibylle, additional, Verlinden, Yvan, additional, Van Baelen, Kurt, additional, Pattery, Theresa, additional, Valentin, Jean-Pierre, additional, Janssen, Kris, additional, Geraerts, Martine, additional, Smeraglia, John, additional, Hellemans, Jan, additional, Wytynck, Pieter, additional, Mestdagh, Pieter, additional, Besbrugge, Nienke, additional, Höfer, René, additional, Nollet, Friedel, additional, Vandesompele, Jo, additional, De Smet, Pieter, additional, Lebon, John, additional, Vandewynckele, Emmanuel, additional, Verstrepen, Steven, additional, Uten, Wouter, additional, Capron, Arnaud, additional, Malonne, Hugues, additional, Poels, Jeroen, additional, and André, Emmanuel, additional

Published
2022
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15. Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load

Author

Mestdagh, Pieter, primary, Gillard, Michel, additional, Dhillon, Sharonjit K., additional, Pirnay, Jean-Paul, additional, Poels, Jeroen, additional, Hellemans, Jan, additional, Hutse, Veronik, additional, Vermeiren, Celine, additional, Boutier, Maxime, additional, De Wever, Veerle, additional, Soentjens, Patrick, additional, Djebara, Sarah, additional, Malonne, Hugues, additional, André, Emmanuel, additional, Arbyn, Marc, additional, Smeraglia, John, additional, and Vandesompele, Jo, additional

Published
2021
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18. Predicting outcomes for children with neuroblastoma using a multigene-expression signature: a retrospective SIOPEN/COG/GPOH study

Author

Vermeulen, Joëlle, De Preter, Katleen, Naranjo, Arlene, Vercruysse, Liesbeth, Van Roy, Nadine, Hellemans, Jan, Swerts, Katrien, Bravo, Sophie, Scaruffi, Paola, Tonini, Gian Paolo, De Bernardi, Bruno, Noguera, Rosa, Piqueras, Marta, Cañete, Adela, Castel, Victoria, Janoueix-Lerosey, Isabelle, Delattre, Olivier, Schleiermacher, Gudrun, Michon, Jean, Combaret, Valérie, Fischer, Matthias, Oberthuer, André, Ambros, Peter F, Beiske, Klaus, Bénard, Jean, Marques, Bárbara, Rubie, Hervé, Kohler, Janice, Pötschger, Ulrike, Ladenstein, Ruth, Hogarty, Michael D, McGrady, Patrick, London, Wendy B, Laureys, Geneviève, Speleman, Frank, and Vandesompele, Jo

Published
2009
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20. Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load

Author

Berke, Peter, Díez, Pedro, Gualandi, Stefano, Marino, Michele, Gerard, Pierre, Marconi, Stefania, Mestdagh, Pieter, Gillard, Michel, Dhillon, Sharonjit S.K., Pirnay, Jean-Paul, Poels, Jeroen, Hellemans, Jan, Hutse, Veronik, Vermeiren, Céline, Boutier, Maxime, De Wever, Veerle, Soentjens, Patrick, Djebara, Sarah, Malonne, Hugues, André, Emmanuel, Arbyn, Marc, Smeraglia, John, Vandesompele, Jo, Berke, Peter, Díez, Pedro, Gualandi, Stefano, Marino, Michele, Gerard, Pierre, Marconi, Stefania, Mestdagh, Pieter, Gillard, Michel, Dhillon, Sharonjit S.K., Pirnay, Jean-Paul, Poels, Jeroen, Hellemans, Jan, Hutse, Veronik, Vermeiren, Céline, Boutier, Maxime, De Wever, Veerle, Soentjens, Patrick, Djebara, Sarah, Malonne, Hugues, André, Emmanuel, Arbyn, Marc, Smeraglia, John, and Vandesompele, Jo

Abstract

Nasopharyngeal swabs are considered the preferential collection method for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) diagnostics. Less invasive and simpler alternative sampling procedures, such as saliva collection, are desirable. We compared saliva specimens and nasopharyngeal (NP) swabs with respect to sensitivity in detecting SARS-CoV-2. A nasopharyngeal and two saliva specimens (collected by spitting or oral swabbing) were obtained from >2500 individuals. All samples were tested by RT-qPCR, detecting RNA of SARS-CoV-2. The test sensitivity was compared on the two saliva collections with the nasopharyngeal specimen for all subjects and stratified by symptom status and viral load. Of the 2850 patients for whom all three samples were available, 105 were positive on NP swab, whereas 32 and 23 were also positive on saliva spitting and saliva swabbing samples, respectively. The sensitivity of the RT-qPCR to detect SARS-CoV-2 among NP-positive patients was 30.5% (95% CI, 1.9%–40.2%) for saliva spitting and 21.9% (95% CI, 14.4%–31.0%) for saliva swabbing. However, when focusing on subjects with medium to high viral load, sensitivity on saliva increased substantially: 93.9% (95% CI, 79.8%–99.3%) and 76.9% (95% CI, 56.4%–91.0%) for spitting and swabbing, respectively, regardless of symptomatic status. Our results suggest that saliva cannot readily replace nasopharyngeal sampling for SARS-CoV-2 diagnostics but may enable identification of the most contagious cases with medium to high viral loads., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2021

24. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia

Author

Hellemans, Jan, Simon, Marleen, Dheedene, Annelies, Alanay, Yasemin, Mihci, Ercan, Rifai, Laila, Sefiani, Abdelaziz, van Bever, Yolande, Meradji, Morteza, Superti-Furga, Andrea, and Mortier, Geert

Subjects
Dysplasia -- Genetic aspects, Gene mutations -- Analysis, Human genome -- Analysis, Bones -- Abnormalities, Bones -- Genetic aspects, Biological sciences
Abstract

Several studies are conducted to explain the different causes, symptoms and effects of spon dylo-megaepiphyseal-metaphyseal dysplasia (SMMD), a very rare skeletal dysplasia caused in humans. The results demonstrate that the mutations taking place in the NKX3-2 gene play an extremely significant role in the onset of the disorder.

Published
2009

25. Catalyzing transcriptomics research in cardiovascular disease: The CardioRNA COST action CA17129

Author

Da Costa Gomes, Clarissa Pedrosa, Ágg, Bence, Andova, Andrejaana, Arslan, Serdal, Baker, Andrew, Barteková, Monika, Beis, Dimitris, Betsou, Fay, Bezzina Wettinger, Stephanie, Bugarski, Branko, Condorelli, Gianluigi, Da Silva, Gustavo José Justo, Danilin, Sabrina, De Gonzalo-Calvo, David, Buil, Alfonso, Carmo-Fonseca, Maria, Enguita, Francisco J., Felekkis, Kyriacos, Ferdinandy, Peter, Gyöngyösi, Mariann, Hackl, Matthias, Karaduzovic-Hadziabdic, Kanita, Hellemans, Jan, Heymans, Stephane, Hlavackova, Markéta, Hoydal, Morten Andre, Jankovic, Aleksandra, Jusic, Amela, Kardassis, Dimitris, Kerkelä, Risto, Kuster, Gabriela M., Lakkisto, Päivi, Leszek, Przemyslaw, Lustrek, Mitja, Maegdefessel, Lars, Martelli, Fabio, Novella, Susana, O’Brien, Timothy, Papaneophytou, Christos, Pedrazzini, Thierry, Pinet, Florence, Popescu, Octavian, Potoˇcnjak, Ines, Robinson, Emma L., Sasson, Shlomo, Scholz, Markus, Simionescu, Maya, Stoll, Monika, Varga, Zoltan V., Vinciguerra, Manlio, Xuereb, Angela, Yilmaz, Mehmet Birhan, Emanueli, Costanza, Devaux, Yvan, Formosa, Melissa Marie, EU-CardioRNA COST Action (CA17129), Repositório da Universidade de Lisboa, Luxembourg Institute of Health (LIH), Semmelweis University [Budapest], Jozef Stefan Institute [Ljubljana] (IJS), Cumhuriyet University [Sivas, Turkey], Queen's Medical Researche Institute, University of Edinburgh, Slovak Academy of Sciences (SAS), Biomedical Research Foundation of the Academy of Athens (BRFAA), Integrated BioBank of Luxembourg (IBBL), University of Malta [Malta], Faculty of Technology and Metallurgy [University of Belgrade], University of Belgrade [Belgrade], Humanitas Clinical and Research Center [Rozzano, Milan, Italy], Oslo University Hospital [Oslo], University of Oslo (UiO), Firalis SAS, Spanish National Research Council (CSIC), Universidade de Lisboa (ULISBOA), University of Cyprus [Nicosia], Medizinische Universität Wien = Medical University of Vienna, International University of Sarajevo, Maastricht University [Maastricht], Czech Academy of Sciences [Prague] (CAS), Norwegian University of Science and Technology [Trondheim] (NTNU), Norwegian University of Science and Technology (NTNU), Institute for Biological Research Sinisa Stankovic [Belgrade] (IBISS), University of Tuzla, University of Crete [Heraklion] (UOC), Institute of Molecular Biology and Biotechnology (IMBB-FORTH), Foundation for Research and Technology - Hellas (FORTH), University of Oulu, University Hospital Basel [Basel], University of Basel (Unibas), Minerva Foundation Institute for Medical Research, Karolinska Institutet [Stockholm], Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Universitat de València (UV), National University of Ireland [Galway] (NUI Galway), Université de Lausanne (UNIL), Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Babes-Bolyai University [Cluj-Napoca] (UBB), The Hebrew University of Jerusalem (HUJ), Leipzig University, Institute of Cellular Biology and Pathology Nicolae Simionescu, Westfälische Wilhelms-Universität Münster (WWU), Dokuz Eylül Üniversitesi = Dokuz Eylül University [Izmir] (DEÜ), National Heart and Lung Institute [London] (NHLI), Royal Brompton and Harefield NHS Foundation Trust-Imperial College London, EU-CardioRNA COST Action (CA17129), European Cooperation in Science and Technology, [Gomes, Clarissa Pedrosa da Costa -- Devaux, Yvan] Luxembourg Inst Hlth, Cardiovasc Res Unit, L-1445 Strassen, Luxembourg -- [Agg, Bence -- Ferdinandy, Peter -- Varga, Zoltan V.] Semmelweis Univ, Dept Pharmacol & Pharmacotherapy, H-1085 Budapest, Hungary -- [Andova, Andrejaana -- Lustrek, Mitja] Jozef Stefan Inst, Dept Intelligent Syst, Ljubljana 1000E, Slovenia -- [Arslan, Serdal] Cumhuriyet Univ, Fac Med, Dept Med Biol, TR-58140 Sivas, Turkey -- [Baker, Andrew] Univ Edinburgh, Ctr Cardiovasc Sci, Queens Med Res Inst, Edinburgh EH16 4TJ, Midlothian, Scotland -- [Bartekova, Monika] Slovak Acad Sci, Ctr Expt Med, Inst Heart Res, Bratislava 84104, Slovakia -- [Beis, Dimitris] Acad Athens, Biomed Res Fdn, Athens 11527, Greece -- [Betsou, Fay] Integrated BioBank Luxembourg, L-3550 Dudelange, Luxembourg -- [Wettinger, Stephanie Bezzina -- Xuereb, Angela] Univ Malta, Fac Hlth Sci, MSD-2080 Msida, Malta -- [Bugarski, Branko] Univ Belgrade, Fac Technol & Met, Belgrade 11000, Serbia -- [Condorelli, Gianluigi] Humanitas Res Hosp, Dept Cardiovasc, I-20089 Rozzano, Italy -- [da Silva, Gustavo Jose Justo] Oslo Univ Hosp, Inst Expt Med Res, PB 4956 Nydalen, NO-0424 Oslo, Norway -- [da Silva, Gustavo Jose Justo] Univ Oslo, PB 4956 Nydalen, NO-0424 Oslo, Norway -- [Danilin, Sabrina] Firalis, F-68330 Huningue, France -- [de Gonzalo-Calvo, David] CSIC, Inst Biomed Res Barcelona IIBB, Barcelona 08036, Spain -- [Buil, Alfonso] Mental Hlth Ctr Sct Hans, DK-4000 Roskilde, Denmark -- [Carmo-Fonseca, Maria -- Enguita, Francisco J.] Univ Lisbon, Fac Med, Inst Med Mol, P-1649028 Lisbon, Portugal -- [Felekkis, Kyriacos -- Papaneophytou, Christos] Univ Nicosia, Sch Sci & Engn, Dept Life & Hlth Sci, CY-2417 Nicosia, Cyprus -- [Gyoengyoesi, Mariann] Med Univ Vienna, Dept Cardiol, A-1090 Vienna, Austria -- [Hackl, Matthias] TAmiRNA, A-1190 Vienna, Austria -- [Karaduzovic-Hadziabdic, Kanita] Int Univ Sarajevo, Fac Engn & Nat Sci, Sarajevo 71210, Bosnia & Herceg -- [Hellemans, Jan] Biogazelle, B-9052 Zwijnaarde, Belgium -- [Heymans, Stephane] Maastricht Univ, Fac Hlth Med & Life Sci, Sch Cardiovasc Dis, NL-6229 ER Maastricht, Netherlands -- [Hlavackova, Marketa] Czech Acad Sci, Inst Physiol, Dept Dev Cardiol, Prague 14220, Czech Republic -- [Hoydal, Morten Andre] NTNU Norwegian Univ Technol & Sci, Fac Med & Hlth Sci, Dept Circulat & Med Imaging, NO-7489 Trondheim, Norway -- [Jankovic, Aleksandra] Univ Belgrade, Inst Biol Res Sinisa Stankovic, Dept Physiol, Belgrade 11000, Serbia -- [Jusic, Amela] Univ Tuzla, Fac Nat Sci & Math, Dept Biol, Tuzla 75000, Bosnia & Herceg -- [Kardassis, Dimitris] Univ Crete, Med Sch, Dept Basic Sci, Iraklion 71003, Crete, Greece -- [Kardassis, Dimitris] Fdn Res & Technol Hellas, Inst Mol Biol & Biotechnol, Iraklion 71003, Crete, Greece -- [Kerkela, Risto] Univ Oulu, Res Unit Biomed, Oulu 90014, Finland -- [Kuster, Gabriela M.] Univ Hosp, Dept Biomed & Clin Cardiol, CH-4031 Basel, Switzerland -- [Kuster, Gabriela M.] Univ Basel, CH-4031 Basel, Switzerland -- [Lakkisto, Paivi] Minerva Fdn, Helsinki 00290, Finland -- [Leszek, Przemyslaw] Cardinal Stefan Wyszynski Inst Cardiol, PL-04628 Warsaw, Poland -- [Maegdefessel, Lars] Karolinska Inst, Ctr Mol Med, S-17176 Stockholm, Sweden -- [Martelli, Fabio] IRCCS Policlin San Donato, Mol Cardiol Lab, I-20097 Milan, Italy -- [Novella, Susana] Univ Valencia, Dept Physiol, Valencia 46010, Spain -- [Novella, Susana] INCLIVA Biomed Res Inst INCLIVA, Valencia 46010, Spain -- [O'Brien, Timothy] Natl Univ Ireland Galway, Regenerat Med Inst REMEDI, Galway H91 TK33, Ireland -- [Pedrazzini, Thierry] Univ Lausanne, Med Sch, Dept Cardiovasc Med, Expt Cardiol Unit,Div Cardiol, CH-1011 Lausanne, Switzerland -- [Pinet, Florence] Inst Pasteur, INSERM, F-59019 Lille, France -- [Popescu, Octavian] Babes Bolyai Univ, Cluj Napoca 400084, Romania -- [Potocnjak, Ines] Univ Hosp Ctr Sisters Char, Inst Clin Med Res & Educ, Zagreb 10000, Croatia -- [Robinson, Emma] Maastricht Univ, Fac Hlth Med & Life Sci, Ctr Heart Failure Res, Dept Cardiol, NL-6229 ER Maastricht, Netherlands -- [Sasson, Shlomo] Hebrew Univ Jerusalem, Fac Med, Inst Drug Res, IL-91120 Jerusalem, Israel -- [Scholz, Markus] Univ Leipzig, Med Fac, Inst Med Informat Stat & Epidemiol, D-04107 Leipzig, Germany -- [Simionescu, Maya] Inst Cellular Biol & Pathol Nicolae Simionescu, Bucharest 050568, Romania -- [Stoll, Monika] Westfalische Wilhelms Univ Munster, Inst Human Genet, Dept Genet Epidemiol, D-48149 Munster, Germany -- [Vinciguerra, Manlio] Int Clin Res Ctr, Brno 65691, Czech Republic -- [Yilmaz, Mehmet Birhan] Dokuz Eylul Univ, Fac Med, Dept Cardiol, TR-35340 Izmir, Turkey -- [Emanueli, Costanza] Imperial Coll London, Fac Med, Natl Heart & Lung Inst, London W12 0HH, England, Hlavackova, Marketa -- 0000-0003-3842-6907, Devaux, Yvan -- 0000-0002-5321-8543, Gyongyosi, Mariann -- 0000-0002-7083-2107, Sasson, Shlomo -- 0000-0002-9343-526X, Buil, Alfonso -- 0000-0002-3097-1014, Hoydal, Morten -- 0000-0003-1804-2578, Justo da Silva, Gustavo -- 0000-0002-1651-7966, Baker, Andrew -- 0000-0003-1441-5576, Lakkisto, Paivi -- 0000-0001-9935-6573, Pinet, Florence -- 0000-0002-5471-1487, Martelli, Fabio -- 0000-0002-8624-7738, Robinson, Emma -- 0000-0002-4866-731X, Novella, Susana -- 0000-0001-8303-7252, Jusic, Amela -- 0000-0003-2835-4284, Beis, Dimitris -- 0000-0003-2579-7848, O'Brien, Timothy -- 0000-0001-9028-5481, Popescu, Octavian -- 0000-0002-2597-7155, Felekkis, Kyriacos -- 0000-0002-0919-0037, de Gonzalo Calvo, David -- 0000-0003-2240-3532, Universidade de Lisboa = University of Lisbon (ULISBOA), University of Cyprus [Nicosia] (UCY), Université de Lausanne = University of Lausanne (UNIL), Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Cardiologie, MUMC+: MA Med Staf Spec Cardiologie (9), RS: CARIM - R2.02 - Cardiomyopathy, RS: CARIM - R2 - Cardiac function and failure, and RS: Carim - H02 Cardiomyopathy

Subjects
Project Report, 0301 basic medicine, medicine.medical_specialty, Biochemistry & Molecular Biology, Knowledge management, lcsh:QH426-470, BIOMARKERS, best practices and guidelines, cardiovascular disease, personalized medicine, transcriptomics, translational research, Context (language use), Translational research, Disease, 030204 cardiovascular system & hematology, Biology, Biochemistry, LONG NONCODING RNAS, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, CIRCULATING MICRORNAS, TARGETS, Genetics, medicine, Cost action, Set (psychology), Molecular Biology, ComputingMilieux_MISCELLANEOUS, Genetics & Heredity, Science & Technology, business.industry, Cardiovascular system -- Diseases, Public health, Medicine -- Research -- International cooperation, 3. Good health, lcsh:Genetics, 030104 developmental biology, Action (philosophy), PERSPECTIVES, Personalized medicine, Translational research, biomedical, business, Transcriptome, Life Sciences & Biomedicine
Abstract

WOS: 000474931400001, PubMed ID: 30934986, Cardiovascular disease (CVD) remains the leading cause of death worldwide and, despite continuous advances, better diagnostic and prognostic tools, as well as therapy, are needed. The human transcriptome, which is the set of all RNA produced in a cell, is much more complex than previously thought and the lack of dialogue between researchers and industrials and consensus on guidelines to generate data make it harder to compare and reproduce results. This European Cooperation in Science and Technology (COST) Action aims to accelerate the understanding of transcriptomics in CVD and further the translation of experimental data into usable applications to improve personalized medicine in this field by creating an interdisciplinary network. It aims to provide opportunities for collaboration between stakeholders from complementary backgrounds, allowing the functions of different RNAs and their interactions to be more rapidly deciphered in the cardiovascular context for translation into the clinic, thus fostering personalized medicine and meeting a current public health challenge. Thus, this Action will advance studies on cardiovascular transcriptomics, generate innovative projects, and consolidate the leadership of European research groups in the field. COST (European Cooperation in Science and Technology) is a funding organization for research and innovation networks (www.cost.eu)., COST (European Cooperation in Science and Technology) Action EU-CardioRNA [CA17129], This work is supported by COST (European Cooperation in Science and Technology) Action EU-CardioRNA CA17129. YD is the chair and CE is the vice-chair of the European COST Action CA17129, CardioRNA.

Published
2019

26. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Author

Coppieters, Frauke, Leroy, Bart P., Beysen, Diane, Hellemans, Jan, De Bosscher, Karolien, Haegeman, Guy, Robberecht, Kirsten, Wuyts, Wim, Coucke, Paul J., and De Baere, Elfride

Subjects
Gene mutations -- Research, Retinitis pigmentosa -- Research, Retinitis pigmentosa -- Causes of, Biological sciences
Abstract

The localization and identification of the photoreceptor cell-specific nuclear gene NR2E3 as a novel disease locus and gene for 'autosomal dominant retinitis pigmentosa' (adRP) is described. A different pathogenetic mechanism is proposed for these distinct dominant and recessive phenotypes, which is attributed to the dual key role of NR2E3 in the regulation-specific genes during rod development and maintenance.

Published
2007

29. Multiple Epiphyseal Dysplasia

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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30. Ollier's Disease

Author

Slawik, Marc, primary, Beuschlein, Felix, additional, Light, Katrina, additional, Mulder, Roger, additional, Dent, Gordon, additional, Buckley, Mark G., additional, Holgate, Stephen T., additional, Misseri, Rosalia, additional, Meldrum, Kirstan K., additional, Mirabella, Massimiliano, additional, Silvestri, Gabriella, additional, Frieling, Thomas, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Schmitt, Marcus, additional, Kohlhase, Jürgen, additional, Hopyan, Sevan, additional, Robson, William Lane M., additional, Molnar, Maria Judit, additional, Saxon, Andrew J., additional, Schimpf, Simone, additional, Bornstein, Stefan R., additional, Ensenauer, Regina, additional, Fuchshuber, Arno, additional, Nunes, Carlo, additional, Escudier, Michael, additional, Spencer, Jo, additional, Lomer, Miranda, additional, Challacombe, Stephen, additional, Sanderson, Jeremy, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Granchi, Donatella, additional, Baldini, Nicola, additional, Ehrlich, George E., additional, Dobbs, Matthew B., additional, Nakagawa, Yasuaki, additional, Hyland, James, additional, Staud, Roland, additional, Kumar, Rajiv, additional, Hohenhaus, Mary H., additional, Col, Nananda F., additional, Helfrich, Miep, additional, Villa, Anna, additional, Hellemans, Jan, additional, Mortier, Geert, additional, Ai, Minrong, additional, Warman, Matthew L., additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, and Plontke, Stefan K., additional

Published
2009
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31. Map-Dot-Fingerprint-Bleb Dystrophy

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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32. Mortimer’s Malady

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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33. OPS

Author

Slawik, Marc, primary, Beuschlein, Felix, additional, Light, Katrina, additional, Mulder, Roger, additional, Dent, Gordon, additional, Buckley, Mark G., additional, Holgate, Stephen T., additional, Misseri, Rosalia, additional, Meldrum, Kirstan K., additional, Mirabella, Massimiliano, additional, Silvestri, Gabriella, additional, Frieling, Thomas, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Schmitt, Marcus, additional, Kohlhase, Jürgen, additional, Hopyan, Sevan, additional, Robson, William Lane M., additional, Molnar, Maria Judit, additional, Saxon, Andrew J., additional, Schimpf, Simone, additional, Bornstein, Stefan R., additional, Ensenauer, Regina, additional, Fuchshuber, Arno, additional, Nunes, Carlo, additional, Escudier, Michael, additional, Spencer, Jo, additional, Lomer, Miranda, additional, Challacombe, Stephen, additional, Sanderson, Jeremy, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Granchi, Donatella, additional, Baldini, Nicola, additional, Ehrlich, George E., additional, Dobbs, Matthew B., additional, Nakagawa, Yasuaki, additional, Hyland, James, additional, Staud, Roland, additional, Kumar, Rajiv, additional, Hohenhaus, Mary H., additional, Col, Nananda F., additional, Helfrich, Miep, additional, Villa, Anna, additional, Hellemans, Jan, additional, Mortier, Geert, additional, Ai, Minrong, additional, Warman, Matthew L., additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, and Plontke, Stefan K., additional

Published
2009
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34. Myalgic Encephalomyelitis

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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35. Microcoria-congenital Nephrosis Syndrome

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

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2009
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36. MPS II

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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37. Ocular Coloboma-Imperforate Anus Syndrome

Author

Slawik, Marc, primary, Beuschlein, Felix, additional, Light, Katrina, additional, Mulder, Roger, additional, Dent, Gordon, additional, Buckley, Mark G., additional, Holgate, Stephen T., additional, Misseri, Rosalia, additional, Meldrum, Kirstan K., additional, Mirabella, Massimiliano, additional, Silvestri, Gabriella, additional, Frieling, Thomas, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Schmitt, Marcus, additional, Kohlhase, Jürgen, additional, Hopyan, Sevan, additional, Robson, William Lane M., additional, Molnar, Maria Judit, additional, Saxon, Andrew J., additional, Schimpf, Simone, additional, Bornstein, Stefan R., additional, Ensenauer, Regina, additional, Fuchshuber, Arno, additional, Nunes, Carlo, additional, Escudier, Michael, additional, Spencer, Jo, additional, Lomer, Miranda, additional, Challacombe, Stephen, additional, Sanderson, Jeremy, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Granchi, Donatella, additional, Baldini, Nicola, additional, Ehrlich, George E., additional, Dobbs, Matthew B., additional, Nakagawa, Yasuaki, additional, Hyland, James, additional, Staud, Roland, additional, Kumar, Rajiv, additional, Hohenhaus, Mary H., additional, Col, Nananda F., additional, Helfrich, Miep, additional, Villa, Anna, additional, Hellemans, Jan, additional, Mortier, Geert, additional, Ai, Minrong, additional, Warman, Matthew L., additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, and Plontke, Stefan K., additional

Published
2009
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38. Macular Corneal Dystrophy

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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39. Mitochondrial Oxidative Phosphorylation Disorders

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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40. Organic Acidurias

Author

Slawik, Marc, primary, Beuschlein, Felix, additional, Light, Katrina, additional, Mulder, Roger, additional, Dent, Gordon, additional, Buckley, Mark G., additional, Holgate, Stephen T., additional, Misseri, Rosalia, additional, Meldrum, Kirstan K., additional, Mirabella, Massimiliano, additional, Silvestri, Gabriella, additional, Frieling, Thomas, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Schmitt, Marcus, additional, Kohlhase, Jürgen, additional, Hopyan, Sevan, additional, Robson, William Lane M., additional, Molnar, Maria Judit, additional, Saxon, Andrew J., additional, Schimpf, Simone, additional, Bornstein, Stefan R., additional, Ensenauer, Regina, additional, Fuchshuber, Arno, additional, Nunes, Carlo, additional, Escudier, Michael, additional, Spencer, Jo, additional, Lomer, Miranda, additional, Challacombe, Stephen, additional, Sanderson, Jeremy, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Granchi, Donatella, additional, Baldini, Nicola, additional, Ehrlich, George E., additional, Dobbs, Matthew B., additional, Nakagawa, Yasuaki, additional, Hyland, James, additional, Staud, Roland, additional, Kumar, Rajiv, additional, Hohenhaus, Mary H., additional, Col, Nananda F., additional, Helfrich, Miep, additional, Villa, Anna, additional, Hellemans, Jan, additional, Mortier, Geert, additional, Ai, Minrong, additional, Warman, Matthew L., additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, and Plontke, Stefan K., additional

Published
2009
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41. Myelomeningocele

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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42. Melkersson-Rosenthal Syndrome

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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43. MEN 2

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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44. Morbus Legg-Calvé-Perthes

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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45. Muscular Dystrophy, Tibial, Udd Myopathy

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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46. Macrothrombocytopenia, Familial, Bernard-Soulier Type

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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47. Milroy Disease

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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48. Orthostatic Hypotensive Disorder

Author

Slawik, Marc, primary, Beuschlein, Felix, additional, Light, Katrina, additional, Mulder, Roger, additional, Dent, Gordon, additional, Buckley, Mark G., additional, Holgate, Stephen T., additional, Misseri, Rosalia, additional, Meldrum, Kirstan K., additional, Mirabella, Massimiliano, additional, Silvestri, Gabriella, additional, Frieling, Thomas, additional, Leung, Alexander K. C., additional, Wong, Andrew L., additional, Schmitt, Marcus, additional, Kohlhase, Jürgen, additional, Hopyan, Sevan, additional, Robson, William Lane M., additional, Molnar, Maria Judit, additional, Saxon, Andrew J., additional, Schimpf, Simone, additional, Bornstein, Stefan R., additional, Ensenauer, Regina, additional, Fuchshuber, Arno, additional, Nunes, Carlo, additional, Escudier, Michael, additional, Spencer, Jo, additional, Lomer, Miranda, additional, Challacombe, Stephen, additional, Sanderson, Jeremy, additional, Suneja, Manish, additional, Thomas, Christie P., additional, Granchi, Donatella, additional, Baldini, Nicola, additional, Ehrlich, George E., additional, Dobbs, Matthew B., additional, Nakagawa, Yasuaki, additional, Hyland, James, additional, Staud, Roland, additional, Kumar, Rajiv, additional, Hohenhaus, Mary H., additional, Col, Nananda F., additional, Helfrich, Miep, additional, Villa, Anna, additional, Hellemans, Jan, additional, Mortier, Geert, additional, Ai, Minrong, additional, Warman, Matthew L., additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, and Plontke, Stefan K., additional

Published
2009
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49. Male Turner Syndrome

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. S., additional, Beck, Michael, additional, Hofmann, Silke, additional, Bruckner-Tuderman, Leena, additional, Metze, Dieter, additional, Hämäläinen, Riikka H., additional, Lehesjoki, Anna-Elina, additional, Lipsanen-Nyman, Marita, additional, Stratakis, Constantine, additional, Marini, Francesca, additional, Falchetti, Alberto, additional, Brandi, Maria Luisa, additional, Koch, Christian A., additional, Stratakis, Constantine A., additional, Briggs, Michael, additional, Wuyts, Wim, additional, Vanhoenacker, Filip, additional, Hul, Wim, additional, Tumani, Hayrettin, additional, Figura, Kurt Von, additional, Dierks, Thomas, additional, Schmidt, Bernhard, additional, Busetto, Luca, additional, Enzi, Giuliano, additional, Klockgether, Thomas, additional, Stefanidis, Ioannis, additional, Hadjigeorgiou, Georgios M., additional, Zerres, Klaus, additional, Rudnik-Schöneborn, Sabine, additional, Gdynia, Hans-Jürgen, additional, Sperfeld, Anne-Dorte, additional, Hoffman, Eric P., additional, Yaou, Rabah Ben, additional, Bonne, Gisèle, additional, Récan-Budiartha, Dominique, additional, Hackman, Peter, additional, Udd, Bjarne, additional, Dietmaier, Wolfgang, additional, Hartmann, Arndt, additional, Prié, Dominique, additional, Silve, Caroline, additional, Grandchamp, Bernard, additional, Friedlander, Gérard, additional, Engel, Andrew G., additional, Kempf, Werner, additional, Dummer, Reinhard, additional, Burg, Günter, additional, Cilloni, Daniela, additional, Saglio, Giuseppe, additional, Schuler, Ulrich S., additional, Bacher, Ulrike, additional, Haferlach, Claudia, additional, Schnittger, Susanne, additional, Haferlach, Torsten, additional, Sauve, Reginald S., additional, Kamat, Deepak, additional, Makoni, Stephen N., additional, Sabina, Richard L., additional, Tyrrell, Benjamin D., additional, Ezekowitz, Justin A., additional, Schillinger, Wolfgang, additional, Hasenfuss, Gerd, additional, Bonney, Kevin M., additional, Engman, David M., additional, Klopstock, Thomas, additional, Asmus, Friedrich, additional, Gasser, Thomas, additional, Zand, Dina J., additional, Zackai, Elaine H., additional, Schaeffel, Frank, additional, Oldfors, Anders, additional, Darin, Niklas, additional, Martinsson, Tommy, additional, Knirsch, Ursula, additional, Stoltenburg-Didinger, Gisela, additional, Raheem, Olayinka, additional, and Suominen, Tiina, additional

Published
2009
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50. Multiple Sclerosis

Author

Oette, Mark, primary, Stone, Marvin J., additional, Scholl, Hendrik P. N., additional, Issa, Peter Charbel, additional, Fleckenstein, Monika, additional, Schmitz-Valckenberg, Steffen, additional, Holz, Frank G., additional, Strauss, Olaf, additional, Schulzke, Jörg-Dieter, additional, Fromm, Michael, additional, McCarthy, Tommie V., additional, Schiller, Meinhard, additional, Grabbe, Stephan, additional, Sunderkötter, Cord, additional, Almogy, Gidon, additional, Rivkind, Avraham I., additional, Kato, Hideaki, additional, Finley, John W., additional, Uhl, Johannes, additional, Kopitz, Jürgen, additional, Cantz, Michael, additional, Giampietro, Philip F., additional, Harting, Inga, additional, Wolf, Nicole I., additional, Grabbe, Jürgen, additional, Beynon, Robert J., additional, Quinlivan, Rosaline C. M., additional, Sewry, Caroline A., additional, Kuroda, Naoto, additional, Korkmaz, Cengiz, additional, Bleyer, Anthony J., additional, Hart, Thomas C., additional, Bisceglia, Michele, additional, Galliani, Carlos, additional, Pfister, Stefan, additional, Witt, Olaf, additional, Leung, Alexander K. C., additional, Hellemans, Jan, additional, Mortier, Geert, additional, Schmitt, Marcus, additional, Pfister, Markus, additional, Zenner, Hans-Peter, additional, Riemenschneider, Markus J., additional, Reifenberger, Guido, additional, Mercer, Julian F. B., additional, Fontaine, Sharon La, additional, Moll, Ingrid, additional, Kone, Bruce C., additional, Dahl, Stephan vom, additional, Schwarz, Peter E. H., additional, Li, Jiang, additional, Gieselmann, Volkmar, additional, Genevieve, David, additional, Merrer, Martine Le, additional, Schnog, John-John B., additional, Gerdes, Victor E. A., additional, Beyer, Katrin, additional, Erasmus, Elardus, additional, Mienie, Lodewyk J., additional, Bubeník, Jan, additional, Šímová, Jana, additional, Buch, Thorsten, additional, Schulz, Ansgar, additional, Förster, Irmgard, additional, Hodgson, Shirley, additional, Sudhoff, Holger, additional, Goadsby, Peter J., additional, Jurkat-Rott, Karin, additional, Lehmann-Horn, Frank, additional, Logan, John, additional, McGuinness, Bernadette, additional, Melaragno, Maria Isabel, additional, Galera, Marcial Francis, additional, Hegde, Hardally R., additional, Jalanko, Hannu, additional, Molnar, Maria Judit, additional, Liolitsa, Danae, additional, Dejthevaporn, Charungthai, additional, Hanna, Michael G., additional, Finsterer, Josef, additional, Goto, Yu-ichi, additional, Ma, Lucia K., additional, Ma, Patrick T. S., additional, Nishikimi, Toshio, additional, Ma, Siobhan D., additional, Rozelle, Andrew, additional, Chakravarty, Eliza F., additional, Bornstein, Stefan R., additional, Schinner, Sven, additional, Duran, Marinus, additional, Robson, William Lane M., additional, Liang, Christine, additional, Schaffer, Julie V., additional, Plesa, Claudiu, additional, Nicolini, Franck E., additional, Sibley, Eric, additional, Oji, Vinzenz, additional, Traupe, Heiko, additional, Bailey, Damian Miles, additional, Mairbäurl, Heimo, additional, Bärtsch, Peter, additional, Leung, Alexander A. C., additional, Fong, Justine H. 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2009
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