Showing results (81-90 of 137) with videos related to
Sort By:
Pageof 14
American Journal of Medical Genetics|February 5, 1998
Impact of carrier status determination for Duchenne/Becker muscular dystrophy by computer-assisted laser densitometryD J Allingham-Hawkins, L K McGlynn-Steele, C A Brown, et al.Mutation Research|May 12, 2009
The functional effect of pathogenic mutations in Rab escort protein 1Y V Sergeev, N Smaoui, R Sui, et al.Human Molecular Genetics|October 1, 1996
Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin geneH J Klamut, L O Bosnoyan-Collins, R G Worton, et al.Human Molecular Genetics|January 12, 2010
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisisY V Sergeev, R C Caruso, M R Meltzer, et al.American Journal of Medical Genetics|June 9, 1999
Achondroplasia-hypochondroplasia complex in a newborn infantM J Huggins, J R Smith, K Chun, et al.Genomics|April 1, 1989
Molecular structure of the human asparagine synthetase geneY P Zhang, M A Lambert, A E Cairney, et al.Clinical Genetics|October 19, 2010
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutationsS Yano, B Baskin, A Bagheri, et al.FEBS Letters|October 12, 2000
Alternative splicing regulates the nuclear or cytoplasmic localization of dystrophin Dp71E González, C Montañez, P N Ray, et al.Human Molecular Genetics|May 1, 1995
A novel dystrophin isoform is required for normal retinal electrophysiologyV N D'Souza, T M Nguyen, G E Morris, et al.Journal of Neuropathology and Experimental Neurology|March 1, 1990
Age-related conversion of dystrophin-negative to -positive fiber segments of skeletal but not cardiac muscle fibers in heterozygote mdx miceG Karpati, E E Zubrzycka-Gaarn, S Carpenter, et al.Pageof 14