Hôpital Armand-trousseau

Top Publications

Top Publications Authored or Co-Authored in "Hôpital Armand-trousseau"

• Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene

  Human Molecular Genetics, Volume 6, No. 12, Year 1997, Citations 646
• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

  Nature, Volume 344, No. 6268, Year 1990, Citations 382
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature

  Journal of Clinical Investigation, Volume 116, No. 3, Year 2006, Citations 318