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EMBO Molecular Medicine|June 19, 2014
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cellsElise Pepermans, Vincent Michel, Richard Goodyear, et al.Clinical Genetics|May 27, 2023
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clusteringJérémy Dana, Guillaume Dorval, Christine Saint Martin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinismPerrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.Retina (Philadelphia, Pa.)|September 4, 2019
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORTSamer Khateb, Saddek Mohand-Saïd, Marco Nassisi, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 11, 2014
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubismNatacha Kadlub, Marie-Paule Vazquez, Louise Galmiche, et al.Arthritis and Rheumatism|February 5, 2010
Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorderIsabelle Jéru, Sandrine Marlin, Gaëlle Le Borgne, et al.Human Mutation|September 22, 2016
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the LiteratureJustine Lerat, Laurence Jonard, Natalie Loundon, et al.Nature Genetics|December 14, 2011
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndromeCarine Le Goff, Clémentine Mahaut, Avinash Abhyankar, et al.European Journal of Human Genetics : EJHG|December 25, 2003
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 geneDelphine Feldmann, Françoise Denoyelle, Natalie Loundon, et al.American Journal of Human Genetics|November 14, 2007
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, et al.Pageof 12