Showing results (81-90 of 97) with videos related to
Sort By:
Pageof 10
European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.The American Journal of Psychiatry|July 29, 2017
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion SyndromeAnne S Bassett, Chelsea Lowther, Daniele Merico, et al.Journal of Medical Genetics|January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendationsMédéric Jeanne, Nathalie Ronce, Solène Remizé, et al.Circulation. Cardiovascular Genetics|October 14, 2017
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the <i>GPR98</i> Locus on 5q14.3Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, et al.European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.European Journal of Human Genetics : EJHG|July 24, 2014
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 casesAlain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, et al.American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patientsMarie Vincent, David Geneviève, Agnès Ostertag, et al.NPJ Genomic Medicine|December 22, 2017
A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.NPJ Genomic Medicine|July 10, 2019
Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndromeAnne-Claude Tabet, Thomas Rolland, Marie Ducloy, et al.Pageof 10