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1. Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

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

9. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

12. Fetal phenotypes in otopalatodigital spectrum disorders

15. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

16. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)

18. Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

19. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56

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

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

26. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

28. Identification of symbol digit modality test score extremes in Huntington's disease

29. Eur J Med Genet

30. A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

37. Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

38. PS1498 INCREASED RHOA ACTIVITY DUE TO A DISRUPTED FILAMIN A/ALPHAIIBBETA3 INTERACTION INDUCES MACROTHROMBOCYTOPENIA

39. Suicidal ideation in a European Huntington's disease population

40. Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

41. Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

43. Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes

44. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

46. RECURRENCE OF POMPE DISEASE IN FIRST COUSINS

47. Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

48. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

50. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

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