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338 results on '"Sultan, Tipu"'

1. Post-Mortem Human Iris Segmentation Analysis with Deep Learning

Author

Hossain, Afzal, Sultan, Tipu, and Schuckers, Stephanie

Subjects
Electrical Engineering and Systems Science - Image and Video Processing, Computer Science - Computer Vision and Pattern Recognition
Abstract

Iris recognition is widely used in several fields such as mobile phones, financial transactions, identification cards, airport security, international border control, voter registration for living persons. However, the possibility of identifying deceased individuals based on their iris patterns has emerged recently as a supplementary or alternative method valuable in forensic analysis. Simultaneously, it poses numerous new technological challenges and one of the most challenging among them is the image segmentation stage as conventional iris recognition approaches have struggled to reliably execute it. This paper presents and compares Deep Learning (DL) models designed for segmenting iris images collected from the deceased subjects, by training SegNet and DeepLabV3+ semantic segmentation methods where using VGG19, ResNet18, ResNet50, MobileNetv2, Xception, or InceptionResNetv2 as backbones. In this study, our experiments demonstrate that our proposed method effectively learns and identifies specific deformations inherent in post-mortem samples and providing a significant improvement in accuracy. By employing our novel method MobileNetv2 as the backbone of DeepLabV3+ and replacing the final layer with a hybrid loss function combining Boundary and Dice loss, we achieve Mean Intersection over Union of 95.54% on the Warsaw-BioBase-PostMortem-Iris-v1 dataset. To the best of our knowledge, this study provides the most extensive evaluation of DL models for post-mortem iris segmentation., Comment: submitted to ijcb 2024 special session

Published
2024

2. Deep Learning Approach for Ear Recognition and Longitudinal Evaluation in Children

Author

Hossain, Afzal, Sultan, Tipu, and Schuckers, Stephanie

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Ear recognition as a biometric modality is becoming increasingly popular, with promising broader application areas. While current applications involve adults, one of the challenges in ear recognition for children is the rapid structural changes in the ear as they age. This work introduces a foundational longitudinal dataset collected from children aged 4 to 14 years over a 2.5-year period and evaluates ear recognition performance in this demographic. We present a deep learning based approach for ear recognition, using an ensemble of VGG16 and MobileNet, focusing on both adult and child datasets, with an emphasis on longitudinal evaluation for children., Comment: Submitted to Biosig 2024

Published
2024

3. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Author

Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian GEL, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, PY Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Ghayoor Karimiani, Ehsan, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, and Maroofian, Reza

Subjects
Pediatric, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, Human Genome, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Clinical sciences, Biological psychology
Abstract

Abstract: LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy, and non-specific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in eleven families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified twelve distinct homozygous loss-of-function variants in sixteen individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor (“ear-of-the-lynx” sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain, and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the “ear of the lynx” sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction.

Published
2023

4. Simulations Toward Design of Matching Layer in Acoustic Emission Sensor

Author

Gangani, Milan, Sultan, Tipu, Kundu, S. N., Kumar, Kundan, Munj, Niket, Sinha, S. K., Angrisani, Leopoldo, Series Editor, Arteaga, Marco, Series Editor, Chakraborty, Samarjit, Series Editor, Chen, Jiming, Series Editor, Chen, Shanben, Series Editor, Chen, Tan Kay, Series Editor, Dillmann, Rüdiger, Series Editor, Duan, Haibin, Series Editor, Ferrari, Gianluigi, Series Editor, Ferre, Manuel, Series Editor, Jabbari, Faryar, Series Editor, Jia, Limin, Series Editor, Kacprzyk, Janusz, Series Editor, Khamis, Alaa, Series Editor, Kroeger, Torsten, Series Editor, Li, Yong, Series Editor, Liang, Qilian, Series Editor, Martín, Ferran, Series Editor, Ming, Tan Cher, Series Editor, Minker, Wolfgang, Series Editor, Misra, Pradeep, Series Editor, Mukhopadhyay, Subhas, Series Editor, Ning, Cun-Zheng, Series Editor, Nishida, Toyoaki, Series Editor, Oneto, Luca, Series Editor, Panigrahi, Bijaya Ketan, Series Editor, Pascucci, Federica, Series Editor, Qin, Yong, Series Editor, Seng, Gan Woon, Series Editor, Speidel, Joachim, Series Editor, Veiga, Germano, Series Editor, Wu, Haitao, Series Editor, Zamboni, Walter, Series Editor, Zhang, Junjie James, Series Editor, Tan, Kay Chen, Series Editor, Gabbouj, Moncef, editor, Pandey, Shyam Sudhir, editor, Garg, Hari Krishna, editor, and Hazra, Ranjay, editor

Published
2024
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12. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Author

Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, and Zweier, Christiane

Published
2023
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15. Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Author

Coulter, Michael E, Musaev, Damir, DeGennaro, Ellen M, Zhang, Xiaochang, Henke, Katrin, James, Kiely N, Smith, Richard S, Hill, R Sean, Partlow, Jennifer N, Muna Al-Saffar, Kamumbu, A Stacy, Hatem, Nicole, Barkovich, A James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S, Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H, Harris, Matthew P, Gleeson, Joseph G, and Walsh, Christopher A

Subjects
Genetics, Pediatric, Brain Disorders, Congenital Structural Anomalies, Rare Diseases, Mental Health, Neurodegenerative, Neurosciences, Clinical Research, Intellectual and Developmental Disabilities (IDD), 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, Neurological, Animals, Brain Diseases, Cell Proliferation, Homozygote, Humans, Mice, Microcephaly, Zebrafish, exocyst, EXOC7, EXOC8, microcephaly, developmental delay, Clinical Sciences, Genetics & Heredity
Abstract

PurposeThe exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes including cell polarity, cell migration, ciliogenesis, cytokinesis, autophagy, and fusion of secretory vesicles. The essential role of these genes in human genetic disorders, however, is unknown.MethodsWe performed homozygosity mapping and exome sequencing of consanguineous families with recessively inherited brain development disorders. We modeled an EXOC7 splice variant in vitro and examined EXOC7 messenger RNA (mRNA) expression in developing mouse and human cortex. We modeled exoc7 loss-of-function in a zebrafish knockout.ResultsWe report variants in exocyst complex members, EXOC7 and EXOC8, in a novel disorder of cerebral cortex development. In EXOC7, we identified four independent partial loss-of-function (LOF) variants in a recessively inherited disorder characterized by brain atrophy, seizures, and developmental delay, and in severe cases, microcephaly and infantile death. In EXOC8, we found a homozygous truncating variant in a family with a similar clinical disorder. We modeled exoc7 deficiency in zebrafish and found the absence of exoc7 causes microcephaly.ConclusionOur results highlight the essential role of the exocyst pathway in normal cortical development and how its perturbation causes complex brain disorders.

Published
2020

16. Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Author

Wenderski, Wendy, Wang, Lu, Krokhotin, Andrey, Walsh, Jessica J, Li, Hongjie, Shoji, Hirotaka, Ghosh, Shereen, George, Renee D, Miller, Erik L, Elias, Laura, Gillespie, Mark A, Son, Esther Y, Staahl, Brett T, Baek, Seung Tae, Stanley, Valentina, Moncada, Cynthia, Shipony, Zohar, Linker, Sara B, Marchetto, Maria CN, Gage, Fred H, Chen, Dillon, Sultan, Tipu, Zaki, Maha S, Ranish, Jeffrey A, Miyakawa, Tsuyoshi, Luo, Liqun, Malenka, Robert C, Crabtree, Gerald R, and Gleeson, Joseph G

Subjects
Autism, Behavioral and Social Science, Basic Behavioral and Social Science, Pediatric, Intellectual and Developmental Disabilities (IDD), Mental Health, Neurosciences, Genetics, Brain Disorders, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Underpinning research, Neurological, Mental health, Actins, Adenosine Triphosphate, Animals, Autism Spectrum Disorder, Behavior, Animal, Chromatin, Chromatin Assembly and Disassembly, Chromosomal Proteins, Non-Histone, Chromosome Pairing, Corpus Callosum, DNA-Binding Proteins, Dendrites, Disease Models, Animal, Gene Expression Regulation, Hippocampus, Humans, Mice, Mice, Knockout, Mutation, Neurons, Transcription Factors, autism, mouse model, recessive, BAF, activity dependent
Abstract

Synaptic activity in neurons leads to the rapid activation of genes involved in mammalian behavior. ATP-dependent chromatin remodelers such as the BAF complex contribute to these responses and are generally thought to activate transcription. However, the mechanisms keeping such "early activation" genes silent have been a mystery. In the course of investigating Mendelian recessive autism, we identified six families with segregating loss-of-function mutations in the neuronal BAF (nBAF) subunit ACTL6B (originally named BAF53b). Accordingly, ACTL6B was the most significantly mutated gene in the Simons Recessive Autism Cohort. At least 14 subunits of the nBAF complex are mutated in autism, collectively making it a major contributor to autism spectrum disorder (ASD). Patient mutations destabilized ACTL6B protein in neurons and rerouted dendrites to the wrong glomerulus in the fly olfactory system. Humans and mice lacking ACTL6B showed corpus callosum hypoplasia, indicating a conserved role for ACTL6B in facilitating neural connectivity. Actl6b knockout mice on two genetic backgrounds exhibited ASD-related behaviors, including social and memory impairments, repetitive behaviors, and hyperactivity. Surprisingly, mutation of Actl6b relieved repression of early response genes including AP1 transcription factors (Fos, Fosl2, Fosb, and Junb), increased chromatin accessibility at AP1 binding sites, and transcriptional changes in late response genes associated with early response transcription factor activity. ACTL6B loss is thus an important cause of recessive ASD, with impaired neuron-specific chromatin repression indicated as a potential mechanism.

Published
2020

17. An Automated Visa Prediction Technique for Higher Studies Using Machine Learning in the Context of Bangladesh

Author

Ahmmed, Asif, Sultan, Tipu, Hasibul Islam Shad, Sk., Jueal Mia, Md., Mazumder, Sourov, Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Nanda, Priyadarsi, editor, Verma, Vivek Kumar, editor, Srivastava, Sumit, editor, Gupta, Rohit Kumar, editor, and Mazumdar, Arka Prokash, editor

Published
2022
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20. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Author

Dominik, Natalia, primary, Efthymiou, Stephanie, additional, Record, Christopher J, additional, Miao, Xinyu, additional, Lin, Renee, additional, Parmar, Jevin, additional, Scardamaglia, Annarita, additional, Maroofian, Reza, additional, Aughey, Gabriel, additional, Wilson, Abigail, additional, Lowe, Simon, additional, Curro, Riccardo, additional, Schnekenberg, Ricardo P, additional, Alavi, Shahryar, additional, Leclaire, Leif, additional, He, Yi, additional, Zhelchenska, Kristina, additional, Bellaiche, Yohanns, additional, Gaugue, Isabelle, additional, Skorupinska, Mariola, additional, Van de Vondel, Liedewei, additional, Da'as, Sahar, additional, Turchetti, Valentina, additional, Gungor, Serdal, additional, Karimiani, Ehsan Ghayoor, additional, Armirola Ricaurte, Camila, additional, Topaloglu, Haluk, additional, Jordanova, Albena, additional, Zaman, Mashaya, additional, Banu, Selina H, additional, Marques, Wilson, additional, Tomaselli, Pedro Jose, additional, Aynekin, Busra, additional, Cansu, Ali, additional, Per, Huseyin, additional, Gulec, Ayten, additional, Alvi, Javeria Raza, additional, Sultan, Tipu, additional, Khan, Arif, additional, Zifarelli, Giovanni, additional, Ibrahim, Shahnaz, additional, Mancini, Grazia M.S., additional, Motazacker, M. Mahdi, additional, Brusse, Esther, additional, Lupo, Vincenzo, additional, Sevilla, Teresa, additional, Tekgul, Seyma, additional, Palvadeau, Robin, additional, Basak, A Nazli, additional, Baets, Jonathan, additional, Parman, Yesim, additional, Cakar, Arman, additional, Horvath, Rita, additional, Haack, Tobias B, additional, Stahl, Jan-Hendrik, additional, Grundmann-Hauser, Kathrin, additional, Park, Joohyun, additional, Zuchner, Stephan, additional, Laing, Nigel G, additional, Wilson, Lindsay, additional, Rossor, Alexander M., additional, Polke, James, additional, Figueiredo, Fernanda Barbosa, additional, Pessoa, Andre Luiz, additional, Kok, Fernando, additional, Coimbra-Neto, Antonio Rodrigues, additional, Franca, Marcondes C, additional, Jamshidi, Yalda, additional, Ravenscroft, Gianina, additional, Ahmed Hamed, Sherifa, additional, Chung, Wendy K., additional, Osborn, Daniel P, additional, Hanna, Michael, additional, Cortese, Andrea, additional, Jepson, James E C, additional, Reilly, Mary M, additional, Lamarche-Vane, Nathalie, additional, and Houlden, Henry, additional

Published
2024
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24. PIGG variant pathogenicity assessment reveals characteristic features within 19 families

Author

Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M. S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., and Murakami, Yoshiko

Published
2021
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25. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

Author

Breuss, Martin W, Nguyen, An, Song, Qiong, Nguyen, Thai, Stanley, Valentina, James, Kiely N, Musaev, Damir, Chai, Guoliang, Wirth, Sara A, Anzenberg, Paula, George, Renee D, Johansen, Anide, Ali, Shaila, Zia-ur-Rehman, Muhammad, Sultan, Tipu, Zaki, Maha S, and Gleeson, Joseph G

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Neurosciences, Brain Disorders, Genetics, Pediatric, Clinical Research, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Animals, Atrophy, Cell Differentiation, Child, Corpus Callosum, Endoplasmic Reticulum, Female, Homeodomain Proteins, Humans, Infant, Intellectual Disability, Male, Membrane Proteins, Mice, Muscle Hypotonia, Mutation, Phenotype, Psychomotor Disorders, Stem Cells, KIAA1715, corpus callosum hypoplasia, endoplasmic reticulum, epilepsy, human genetics, hypotonia, lunapark, organelle morphology, recessive disease, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The dynamic shape of the endoplasmic reticulum (ER) is a reflection of its wide variety of critical cell biological functions. Consequently, perturbation of ER-shaping proteins can cause a range of human phenotypes. Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which is proposed to serve as a curvature-stabilizing protein within tubular three-way junctions of the ER. All individuals presented with severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia, and two of three showed mild cerebellar hypoplasia and atrophy. Consistent with a proposed role in neurodevelopmental disease, LNPK was expressed during brain development in humans and mice and was present in neurite-like processes in differentiating human neural progenitor cells. Affected cells showed the absence of full-length lunapark, aberrant ER structures, and increased luminal mass density. Together, our results implicate the ER junction stabilizer lunapark in establishing the corpus callosum.

Published
2018

26. Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Author

Efthymiou, Stephanie, primary, Scala, Marcello, additional, Nagaraj, Vini, additional, Ochenkowska, Katarzyna, additional, Komdeur, Fenne L, additional, Liang, Robin A, additional, Abdel-Hamid, Mohamed S, additional, Sultan, Tipu, additional, Barøy, Tuva, additional, Van Ghelue, Marijke, additional, Vona, Barbara, additional, Maroofian, Reza, additional, Zafar, Faisal, additional, Alkuraya, Fowzan S, additional, Zaki, Maha S, additional, Severino, Mariasavina, additional, Duru, Kingsley C, additional, Tryon, Robert C, additional, Brauteset, Lin Vigdis, additional, Ansari, Morad, additional, Hamilton, Mark, additional, van Haelst, Mieke M, additional, van Haaften, Gijs, additional, Zara, Federico, additional, Houlden, Henry, additional, Samarut, Éric, additional, Nichols, Colin G, additional, Smeland, Marie F, additional, and McClenaghan, Conor, additional

Published
2024
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27. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Author

Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Wren, Jonathan D., Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Hanna, Michael G., Kenna, Margaret, Merritt, J. Lawrence, II, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., and Varshney, Gaurav K.

Published
2021
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28. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

Author

Dworschak, Gabriel C., Punetha, Jaya, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Héron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan, Chung, Wendy K., O’Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Öznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R., and Reutter, Heiko

Published
2021
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30. Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Author

Ghosh, Shereen G., Lee, Sangmoon, Fabunan, Rudy, Chai, Guoliang, Zaki, Maha S., Abdel-Salam, Ghada, Sultan, Tipu, Ben-Omran, Tawfeg, Alvi, Javeria Raza, McEvoy-Venneri, Jennifer, Stanley, Valentina, Patel, Aakash, Ross, Danica, Ding, Jeffrey, Jain, Mohit, Pan, Daqiang, Lübbert, Philipp, Kammerer, Bernd, Wiedemann, Nils, Verhoeven-Duif, Nanda M., Jans, Judith J., Murphy, David, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Ibrahim, Khalid, Waters, Elizabeth R., Maroofian, Reza, and Gleeson, Joseph G.

Published
2021
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32. Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult Cerebellum.

Author

Bucknor, Eboni M. V., Johnson, Errin, Efthymiou, Stephanie, Alvi, Javeria R., Sultan, Tipu, Houlden, Henry, Maroofian, Reza, Karimiani, Ehsan G., Finelli, Mattéa J., and Oliver, Peter L.

Subjects
NEUROINFLAMMATION, CEREBELLUM, GENE expression, HUMAN abnormalities, CEREBELLAR ataxia, CEREBELLAR cortex, OXIDATIVE stress
Abstract

Loss-of-function mutations in the TLDc family of proteins cause a range of severe childhood-onset neurological disorders with common clinical features that include cerebellar neurodegeneration, ataxia and epilepsy. Of these proteins, oxidation resistance 1 (OXR1) has been implicated in multiple cellular pathways related to antioxidant function, transcriptional regulation and cellular survival; yet how this relates to the specific neuropathological features in disease remains unclear. Here, we investigate a range of loss-of-function mouse model systems and reveal that constitutive deletion of Oxr1 leads to a rapid and striking neuroinflammatory response prior to neurodegeneration that is associated with lysosomal pathology. We go on to show that neuroinflammation and cell death in Oxr1 knockouts can be completely rescued by the neuronal expression of Oxr1, suggesting that the phenotype is driven by the cell-intrinsic defects of neuronal cells lacking the gene. Next, we generate a ubiquitous, adult inducible knockout of Oxr1 that surprisingly displays rapid-onset ataxia and cerebellar neurodegeneration, establishing for the first time that the distinctive pathology associated with the loss of Oxr1 occurs irrespective of developmental stage. Finally, we describe two new homozygous human pathogenic variants in OXR1 that cause neurodevelopmental delay, including a novel stop-gain mutation. We also compare functionally two missense human pathogenic mutations in OXR1, including one newly described here, that cause different clinical phenotypes but demonstrate partially retained neuroprotective activity against oxidative stress. Together, these data highlight the essential role of Oxr1 in modulating neuroinflammatory and lysosomal pathways in the mammalian brain and support the hypothesis that OXR1 protein dosage may be critical for pathological outcomes in disease. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Author

Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Karimiani, Ehsan Ghayoor, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, and Alvi, Javeria Raza

Subjects
MOVEMENT disorders, AGENESIS of corpus callosum, NEUROLOGICAL disorders, SYNDROMES, FACIAL abnormalities, CEREBELLAR ataxia, CHEMICAL models
Abstract

The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N -myristoylation of proteins via N -myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N -myristoylation with myristic acid alkyne (YnMyr) chemical proteomics in the model organisms and human cells, with the latter also being subjected further to ACBD6 peroxisomal localization studies. The affected individuals (23 males and 22 females), aged 1–50 years, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%) and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%) and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism/hypokinesia developing with advancing age (32%) and simple motor and vocal tics were among other frequent movement disorders. Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia/agenesis of the anterior commissure (66%), short midbrain and small inferior cerebellar vermis (38% each) as well as hypertrophy of the clava (24%) were common neuroimaging findings. Acbd6 -deficient zebrafish and Xenopus models effectively recapitulated many clinical phenotypes reported in patients including movement disorders, progressive neuromotor impairment, seizures, microcephaly, craniofacial dysmorphism and midbrain defects accompanied by developmental delay with increased mortality over time. Unlike ACBD5, ACBD6 did not show a peroxisomal localization and ACBD6-deficiency was not associated with altered peroxisomal parameters in patient fibroblasts. Significant differences in YnMyr-labelling were observed for 68 co- and 18 post-translationally N -myristoylated proteins in patient-derived fibroblasts. N -myristoylation was similarly affected in acbd6 -deficient zebrafish and X. tropicalis models, including Fus, Marcks and Chchd-related proteins implicated in neurological diseases. The present study provides evidence that bi-allelic pathogenic variants in ACBD6 lead to a distinct neurodevelopmental syndrome accompanied by complex and progressive cognitive and movement disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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36. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Author

Breuss, Martin W, Sultan, Tipu, James, Kiely N, Rosti, Rasim O, Scott, Eric, Musaev, Damir, Furia, Bansri, Reis, André, Sticht, Heinrich, Al-Owain, Mohammed, Alkuraya, Fowzan S, Reuter, Miriam S, Jamra, Rami Abou, Trotta, Christopher R, and Gleeson, Joseph G

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Neurosciences, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Neurological, Amino Acid Sequence, Cerebellar Diseases, Child, Child, Preschool, Endonucleases, Female, Genes, Recessive, Humans, Infant, Infant, Newborn, Male, Microcephaly, Models, Molecular, Mutation, Pedigree, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The tRNA splicing endonuclease is a highly evolutionarily conserved protein complex, involved in the cleavage of intron-containing tRNAs. In human it consists of the catalytic subunits TSEN2 and TSEN34, as well as the non-catalytic TSEN54 and TSEN15. Recessive mutations in the corresponding genes of the first three are known to cause pontocerebellar hypoplasia (PCH) types 2A-C, 4, and 5. Here, we report three homozygous TSEN15 variants that cause a milder version of PCH2. The affected individuals showed progressive microcephaly, delayed developmental milestones, intellectual disability, and, in two out of four cases, epilepsy. None, however, displayed the central visual failure seen in PCH case subjects where other subunits of the TSEN are mutated, and only one was affected by the extensive motor defects that are typical in other forms of PCH2. The three amino acid substitutions impacted the protein level of TSEN15 and the stoichiometry of the interacting subunits in different ways, but all resulted in an almost complete loss of in vitro tRNA cleavage activity. Taken together, our results demonstrate that mutations in any known subunit of the TSEN complex can cause PCH and progressive microcephaly, emphasizing the importance of its function during brain development.

Published
2016

38. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Author

Kaiyrzhanov, Rauan, primary, Rad, Aboulfazl, additional, Lin, Sheng-Jia, additional, Bertoli-Avella, Aida, additional, Kallemeijn, Wouter W, additional, Godwin, Annie, additional, Zaki, Maha S, additional, Huang, Kevin, additional, Lau, Tracy, additional, Petree, Cassidy, additional, Efthymiou, Stephanie, additional, Ghayoor Karimiani, Ehsan, additional, Hempel, Maja, additional, Normand, Elizabeth A, additional, Rudnik-Schöneborn, Sabine, additional, Schatz, Ulrich A, additional, Baggelaar, Marc P, additional, Ilyas, Muhammad, additional, Sultan, Tipu, additional, Alvi, Javeria Raza, additional, Ganieva, Manizha, additional, Fowler, Ben, additional, Aanicai, Ruxandra, additional, Akay Tayfun, Gulsen, additional, Al Saman, Abdulaziz, additional, Alswaid, Abdulrahman, additional, Amiri, Nafise, additional, Asilova, Nilufar, additional, Shotelersuk, Vorasuk, additional, Yeetong, Patra, additional, Azam, Matloob, additional, Babaei, Meisam, additional, Bahrami Monajemi, Gholamreza, additional, Mohammadi, Pouria, additional, Samie, Saeed, additional, Banu, Selina Husna, additional, Basto, Jorge Pinto, additional, Kortüm, Fanny, additional, Bauer, Mislen, additional, Bauer, Peter, additional, Beetz, Christian, additional, Garshasbi, Masoud, additional, Hameed Issa, Awatif, additional, Eyaid, Wafaa, additional, Ahmed, Hind, additional, Hashemi, Narges, additional, Hassanpour, Kazem, additional, Herman, Isabella, additional, Ibrohimov, Sherozjon, additional, Abdul-Majeed, Ban A, additional, Imdad, Maria, additional, Isrofilov, Maksudjon, additional, Kaiyal, Qassem, additional, Khan, Suliman, additional, Kirmse, Brian, additional, Koster, Janet, additional, Lourenço, Charles Marques, additional, Mitani, Tadahiro, additional, Moldovan, Oana, additional, Murphy, David, additional, Najafi, Maryam, additional, Pehlivan, Davut, additional, Rocha, Maria Eugenia, additional, Salpietro, Vincenzo, additional, Schmidts, Miriam, additional, Shalata, Adel, additional, Mahroum, Mohammad, additional, Talbeya, Jawabreh Kassem, additional, Taylor, Robert W, additional, Vazquez, Dayana, additional, Vetro, Annalisa, additional, Waterham, Hans R, additional, Zaman, Mashaya, additional, Schrader, Tina A, additional, Chung, Wendy K, additional, Guerrini, Renzo, additional, Lupski, James R, additional, Gleeson, Joseph, additional, Suri, Mohnish, additional, Jamshidi, Yalda, additional, Bhatia, Kailash P, additional, Vona, Barbara, additional, Schrader, Michael, additional, Severino, Mariasavina, additional, Guille, Matthew, additional, Tate, Edward W, additional, Varshney, Gaurav K, additional, Houlden, Henry, additional, and Maroofian, Reza, additional

Published
2023
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43. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Author

Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., and Houlden, Henry

Published
2024
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46. Comparison of Preoperative Analgesics on the Efficacy of Inferior Alveolar Nerve Block with Patients Having Symptomatic Irreversible Pulpitis: A Double-Blinded, Randomized Controlled Trial.

Author

RIAZ, Maryam, ZAFAR, Farjad, KHALID, Zara, SULTAN, Tipu, WALI, Aisha, and SIDDIQUI, Talha Mufeed

Subjects
ANALGESICS, NERVE block, ALVEOLAR nerve, ANESTHESIA, MEDICAL care
Abstract

Objective: The objective of this study was to evaluate the effectiveness of preoperative analgesics on inferior alveolar nerve blocks (IANB) during root canal treatment in patients with symptomatic irreversible pulpitis of the mandibular molars. Methods: This study was a randomized, double-blinded, superiority trial with a parallel study design. A total of 120 subjects with symptomatic irreversible pulpitis were randomly assigned to one of four groups: group A (control, Vitamin E, Evion 400 mg), group B (Diclofenac sodium, Voltral SR100 100 mg), group C (Piroxicam, Feldene 20 mg), and group D (Tramadol, Tramal 50 mg). The patients recorded preoperative pain levels, and after administration of local anaesthesia intraoperative pain levels using the Heft-Parker visual analogue scale before and after the oral administration of the analgesics. Statistical analysis was performed using the Kruskal-Wallis test. Results: All the analgesic groups showed a significant effect on the efficacy of the inferior alveolar nerve block in contrast to the control group (p<0.05). However, no significant difference was found between the drug groups on the effectiveness of the inferior alveolar nerve block (p>0.05). No side effects were reported in the present study. Conclusion: Preoperative analgesics significantly increase the effectiveness of inferior alveolar nerve block in patients with symptomatic irreversible pulpitis. Therefore, preoperative analgesics should be considered to increase the effectiveness of inferior alveolar nerve block in patients with symptomatic irreversible pulpitis on the mandibular molars. [ABSTRACT FROM AUTHOR]

Published
2023
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49. Correction to: Expanding the genetic heterogeneity of intellectual disability

Author

Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, and Alkuraya, Fowzan S.

Published
2017
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