Showing results (71-80 of 81) with videos related to
Sort By:
Pageof 9
Human Mutation|February 20, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndromeMark T Handley, Deborah J Morris-Rosendahl, Stephen Brown, et al.Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.American Journal of Human Genetics|December 4, 2012
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, et al.Brain : a Journal of Neurology|January 18, 2018
Hot-spot KIF5A mutations cause familial ALSDavid Brenner, Rüstem Yilmaz, Kathrin Müller, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variantsJennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, et al.American Journal of Human Genetics|January 25, 2011
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, et al.European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.Nature Genetics|August 31, 2010
Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1Verneri Anttila, Hreinn Stefansson, Mikko Kallela, et al.Nature Genetics|June 25, 2013
Genome-wide meta-analysis identifies new susceptibility loci for migraineVerneri Anttila, Bendik S Winsvold, Padhraig Gormley, et al.Nature Genetics|June 21, 2016
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migrainePadhraig Gormley, Verneri Anttila, Bendik S Winsvold, et al.Pageof 9