1,043 results on '"De Paepe, Anne"'
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2. A clinical scoring system for congenital contractural arachnodactyly
3. Cardiovascular Manifestations in Inherited Connective Tissue Disorders
4. Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome
5. Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
6. Data from Functional Analysis of the p53 Pathway in Neuroblastoma Cells Using the Small-Molecule MDM2 Antagonist Nutlin-3
7. Supplementary Methods, Tables 1-2, Figures 1-3 from Functional Analysis of the p53 Pathway in Neuroblastoma Cells Using the Small-Molecule MDM2 Antagonist Nutlin-3
8. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
9. Attitudes of European Geneticists Regarding Expanded Carrier Screening
10. The use of Raman spectroscopy in pharmaceutical analysis
11. 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
12. Supplementary Table 1 from Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification
13. Supplementary Table 2 from Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification
14. Supplementary Figures 1-5 from Small-Molecule MDM2 Antagonists as a New Therapy Concept for Neuroblastoma
15. The Ehlers-Danlos Syndrome
16. Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
17. Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories
18. Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancer
19. The Ehlers—Danlos Syndrome
20. Correction: Arterial tortuosity syndrome: 40 new families and literature review
21. Clinical heterogeneity in patients with the hypermobility type of Ehlers-Danlos Syndrome
22. Gene Expression Profiling Reveals Two Distinct Subtypes of Merkel Cell Carcinoma
23. The 2017 international classification of the Ehlers–Danlos syndromes
24. Medication, Surgery, and Physiotherapy Among Patients With the Hypermobility Type of Ehlers-Danlos Syndrome
25. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
26. Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
27. An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure
28. Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
29. Marfan Syndrome in Europe : A Questionnaire Study on Patient Perceptions
30. Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
31. Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome
32. Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialistsʼ Collaboration
33. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis
34. Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
35. Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type among flemish physiotherapists
36. Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
37. Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes : A Supplement to HRMCA Mutation Scanning, Allowing the Strong Reduction of Sequencing Burden
38. Type I Procollagen C-Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure
39. List of Contributors
40. Sequence Alterations in the Carboxyl-Terminal Propeptide Domain
41. Leapfrogging with technology: introduction of a monitoring platform to support a large-scale Ebola vaccination program in Rwanda
42. The Ehlers-Danlos Syndrome
43. Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing
44. The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)
45. Joint position sense and vibratory perception sense in patients with Ehlers–Danlos syndrome type III (hypermobility type)
46. Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum
47. Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country
48. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
49. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
50. New insights into the pathogenesis and treatment of arterial aneurysms and dissections
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