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Nature Genetics|March 13, 2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyPetter Strømme, Marie E Mangelsdorf, Marie A Shaw, et al.American Journal of Human Genetics|July 19, 2011
Disruption of a ciliary B9 protein complex causes Meckel syndromeWilliam E Dowdle, Jon F Robinson, Andreas Kneist, et al.European Journal of Human Genetics : EJHG|June 19, 2014
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndromeLisenka E L M Vissers, Monica Bonetti, Jeroen Paardekooper Overman, et al.Brain : a Journal of Neurology|March 7, 2008
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz, Rebecca Schüle, Tine Deconinck, et al.European Journal of Medical Genetics|March 3, 2009
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndromeNathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, et al.Nature Communications|November 3, 2022
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome XElsa Leitão, Christopher Schröder, Ilaria Parenti, et al.Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.Pageof 2