Showing results (81-90 of 132) with videos related to
Sort By:
Pageof 14
Neurology|November 4, 2006
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardationK Szczaluba, M Nawara, K Poirier, et al.Nature Genetics|January 1, 1993
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinJ Chelly, Z Tümer, T Tønnesen, et al.Human Molecular Genetics|January 1, 1994
Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)N Fairweather, C Bell, S Cochrane, et al.European Journal of Human Genetics : EJHG|August 10, 1999
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxiaD Tentler, P Gustavsson, J Leisti, et al.Genomics|March 1, 1995
Construction of a YAC contig spanning the Xq13.3 subbandL Villard, J Gecz, L Colleaux, et al.Journal of Cellular and Molecular Medicine|June 24, 2010
Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genesJ Nectoux, Y Fichou, H Rosas-Vargas, et al.American Journal of Human Genetics|September 1, 1995
Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1G Haberhausen, I Schmitt, A Köhler, et al.American Journal of Medical Genetics|May 8, 1999
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large familyC Gendrot, N Ronce, M Raynaud, et al.Neurology|April 25, 2008
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndromeJ Nectoux, N Bahi-Buisson, I Guellec, et al.Seizure|May 25, 2002
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutationV des Portes, L Abaoub, A Joannard, et al.Pageof 14