Showing results (251-260 of 262) with videos related to

Sort By:
Pageof 27
Neurology|January 1, 1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patientsI Silveira, I Lopes-Cendes, S Kish, et al.
Scientific Reports|November 16, 2017
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathiesA Hammarsjö, Z Wang, R Vaz, et al.
Nature Communications|December 23, 2015
NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.
American Journal of Human Genetics|July 20, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationH van Bokhoven, B C Hamel, M Bamshad, et al.
American Journal of Medical Genetics|April 20, 1999
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary dataD J Allingham-Hawkins, R Babul-Hirji, D Chitayat, et al.
American Journal of Medical Genetics. Part A|December 14, 2007
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)T A Briggs, G M H Abdel-Salam, M Balicki, et al.
American Journal of Human Genetics|June 13, 1998
DAX1 mutations map to putative structural domains in a deduced three-dimensional modelY H Zhang, W Guo, R L Wagner, et al.
Human Molecular Genetics|September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosisC Sobacchi, A Frattini, P Orchard, et al.
Molecular Syndromology|December 6, 2011
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1A Theisen, J A Rosenfeld, K Shane, et al.
Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.
Pageof 27