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Journal of Medical Genetics|April 3, 2007
Autism, language delay and mental retardation in a patient with 7q11 duplicationC Depienne, D Heron, C Betancur, et al.The Journal of Clinical Endocrinology and Metabolism|August 6, 2002
A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat lengthS Dejager, H Bry-Gauillard, E Bruckert, et al.Nature Genetics|April 28, 2001
First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit geneS Baulac, G Huberfeld, I Gourfinkel-An, et al.Neurology|November 1, 1995
Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletionR Gouider, E LeGuern, M Gugenheim, et al.Nature Genetics|May 1, 1995
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1A Benomar, L Krols, G Stevanin, et al.Epilepsy Research|December 4, 2003
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsyR Nabbout, A Kozlovski, E Gennaro, et al.Neurology|June 14, 2006
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type VO Dubourg, H Azzedine, R Ben Yaou, et al.European Journal of Human Genetics : EJHG|April 26, 2000
Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1AR Bernard, V Labelle, P Negre, et al.Human Genetics|October 1, 1993
Molecular analysis of a ring chromosome X in a family with fragile X syndromeE Mornet, A Bogyo, C Deluchat, et al.Journal of Medical Genetics|April 16, 1998
The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth diseaseF Meggouh, A Benomar, H Rouger, et al.Pageof 7