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Clinical Genetics|August 8, 2008
The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in NewfoundlandS J Moore, D J Buckley, A MacMillan, et al.Human Genetics|September 10, 1999
Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutationsD A Pillers, K M Fitzgerald, N M Duncan, et al.Molecular Genetics and Metabolism|March 9, 1999
Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutantsD A Pillers, R G Weleber, D G Green, et al.Nature Genetics|January 4, 2001
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophyK Zhang, M Kniazeva, M Han, et al.Nature Communications|January 10, 2015
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindnessS Kmoch, J Majewski, V Ramamurthy, et al.JAMA|May 20, 1992
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter studyJ S Chamberlain, J R Chamberlain, R G Fenwick, et al.Nature|July 3, 1986
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophyL M Kunkel, J F Hejtmancik, C T Caskey, et al.Pageof 14