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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

3. Effects of eight neuropsychiatric copy number variants on human brain structure

4. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

6. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

7. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

11. Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome

12. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

17. Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.

20. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

24. Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

25. Résultats à long terme du sphincter urinaire artificiel chez les patients spina bifida de sexe masculin

26. Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

27. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

28. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in the Cockayne syndrome

30. Expression clinique des porteuses symptomatiques de mutations du g&egrave ; ne EMD. A propos de 4 cas

31. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

32. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.

33. Centre de référence spina-bifida

34. Reference center spina bifida

36. Mutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome

37. MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

38. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

43. [An example of detection of heterozygotes and antenatal diagnosis in four families with anhidrotic ectodermal dysplasia]

44. Dépistage néonatal de la mucoviscidose : problèmes diagnostiques et aspects éthiques des formes frontières

47. Mutation update for the CSB/ ERCC6 and CSA/ ERCC8 genes involved in Cockayne syndrome.

49. Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

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