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Human Molecular Genetics|February 23, 2023
Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failureLiping Huang, Zhongyue Yang, Catherine P Kirschke, et al.European Journal of Human Genetics : EJHG|February 11, 2005
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletionDominique Brémond-Gignac, John A Crolla, Henri Copin, et al.Aviation, Space, and Environmental Medicine|March 4, 2005
Psychostimulants and G tolerance in rhesus monkeys: effects of oral modafinil and injected caffeineGeneviève Florence, Laurent Riondet, André Serra, et al.Journal of Human Genetics|November 26, 2005
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome familiesCorinne Stoetzel, Virginie Laurier, Laurence Faivre, et al.Frontiers in Genetics|January 9, 2019
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation SequencingCéline Bris, David Goudenege, Valérie Desquiret-Dumas, et al.JAMA Dermatology|November 15, 2013
Clinical and immunologic factors associated with bullous pemphigoid relapse during the first year of treatment: a multicenter, prospective studyFanny Fichel, Coralie Barbe, Pascal Joly, et al.Orphanet Journal of Rare Diseases|August 7, 2021
Health care transition for patients with vascular malformations: a French multicenter cross-sectional studyCamille Vermersch, Olivia Boccara, Christine Chiaverini, et al.The Journal of Pediatrics|December 21, 2010
Medial fronto-facial capillary malformationsLaura Sillard, Christine Léauté-Labreze, Juliette Mazereeuw-Hautier, et al.Gastroenterology|November 3, 2004
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction diseaseSmail Hadj-Rabia, Lekbir Baala, Pierre Vabres, et al.Experimental Neurology|September 21, 2010
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutationsJulien Cassereau, Arnaud Chevrollier, Naïg Gueguen, et al.Pageof 33