132 results on '"Beroud, Christophe"'
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2. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
3. Whole-body muscle MRI characteristics of LAMA2-related congenital muscular dystrophy children: An emerging pattern
4. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
5. Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries
6. Simple Sequence Mutations
7. Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia
8. Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
9. Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan
10. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
11. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
12. Clinical Significance of Aortic Root Modification Associated With Bicuspid Aortic Valve in Marfan Syndrome: An Observational Cohort Study
13. A mutation in the Gardos channel is associated with hereditary xerocytosis
14. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
15. Diagnostic approach to the congenital muscular dystrophies
16. Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton
17. CNVscore calculates pathogenicity scores for copy number variants together with uncertainty estimates accounting for learning biases in reference Mendelian disorder datasets.
18. Highlighting the Dystonic Phenotype Related to GNAO1
19. The RD-Connect Genome-Phenome Analysis Platform : Accelerating diagnosis, research, and gene discovery for rare diseases
20. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies:a large international cohort
21. Surgical management of patients with Marfan syndrome: Evolution throughout the years
22. Chapitre 24 - Bases de données et outils bio-informatiques utiles en génétique
23. Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies
24. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
25. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
26. Genomic variations integrated database for MUTYH-associated adenomatous polyposis
27. 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands
28. 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
29. Whole-Body Muscle MRI Characteristics of LAMA2 Gene Mutation Congenital Muscular Dystrophy Children
30. Additional file 6 of X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
31. Additional file 7 of X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
32. UMD-DYSF, A Novel Locus Specific Database for the Compilation and Interactive Analysis of Mutations in the Dysferlin Gene†
33. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization.
34. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization.
35. Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome
36. Congenital Muscular Dystrophies Molecular Diagnosis: From the LAMA2 Gene to NGS
37. Cardiovascular manifestations in men and women carrying a FBN1 mutation
38. Self-report questionnaire vs. clinical evaluation form in the French National Registry on facioscapulohumeral dystrophy: a statistical comparison
39. Liste des collaborateurs
40. UMD-MEN1 database: analysis of clinical and genetic data from 1,676 patients by the TENGEN network
41. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy
42. Large genomic rearrangements in the CFTR gene contribute to CBAVD
43. Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
44. OISO, traitement informatisé de la prise en charge en oncogénétique clinique
45. New advances in DPYD genotype and risk of severe toxicity under capecitabine
46. How to identify pathogenic mutations among all those variations: Variant annotation and filtration in the genome sequencing era
47. RD-Connect : An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
48. Erratum to: Dispelling myths about rare disease registry system development
49. The adult phenotype of congenital muscular dystrophy (MDC1A) due to mutation of LAMA2
50. Genomic variations integrated database forMUTYH-associated adenomatous polyposis
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