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American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.Journal of Human Genetics|May 20, 2016
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrumSébastien Moutton, Patricia Fergelot, Sophie Naudion, et al.Archives of Otolaryngology--Head & Neck Surgery|June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patientsSandrine Marlin, Delphine Feldmann, Hélène Blons, et al.European Journal of Human Genetics : EJHG|October 30, 2014
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, et al.Blood|June 20, 2018
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndromeChristine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, et al.Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.European Journal of Human Genetics : EJHG|February 20, 2020
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20Aurélien Juven, Sophie Nambot, Amélie Piton, et al.Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.The Journal of Chemical Physics|December 4, 2018
Coulomb explosion imaging of CH3I and CH2ClI photodissociation dynamicsFelix Allum, Michael Burt, Kasra Amini, et al.Pageof 29