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Society of General Physiologists Series|January 1, 1995
In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4J Wang, V Dubowitz, F Lehmann-Horn, et al.Human Genetics|May 1, 1995
Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methodsH Kobayashi, T C Matise, M W Perlin, et al.Journal of Pediatric and Adolescent Gynecology|August 15, 1998
17 alpha-hydroxylase/17,20-lyase dysregulation is not caused by mutations in the coding regions of CYP17S F Witchel, P A Lee, M Suda-Hartman, et al.American Journal of Medical Genetics|September 1, 1991
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophyJ R Lupski, C A Garcia, H Y Zoghbi, et al.Neuropediatrics|June 1, 1995
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophyA Fidzianska, A Morrone, E Pegoraro, et al.Neuromuscular Disorders : NMD|March 1, 1993
Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patientsM Fanin, E P Hoffman, F A Saad, et al.American Journal of Medical Genetics|February 1, 1994
Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy familyR C Hoop, L S Russo, D L Riconda, et al.Journal of Virology|January 11, 2000
Full functional rescue of a complete muscle (TA) in dystrophic hamsters by adeno-associated virus vector-directed gene therapyX Xiao, J Li, Y P Tsao, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 19, 2006
The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophyD M Bonifati, S F Witchel, M Ermani, et al.American Journal of Medical Genetics|August 1, 1992
X inactivation and dystrophin studies in a t(X;12) female: evidence for biochemical normalization in Duchenne muscular dystrophy carriersS L Wenger, M W Steele, E P Hoffman, et al.Pageof 19