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American Journal of Human Genetics|May 1, 1995
The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter regionM Wijker, M J Ligtenberg, F Schoute, et al.Annals of Neurology|October 1, 1994
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsiesE C Mariman, A A Gabreëls-Festen, S E van Beersum, et al.Clinical Genetics|June 1, 1997
On the many faces of Leber hereditary optic neuropathyR J Oostra, N T Tijmes, J M Cobben, et al.Nature Genetics|September 1, 1993
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1BT Kulkens, P A Bolhuis, R A Wolterman, et al.Human Genetics|December 1, 1991
The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2J E Hoogendijk, G W Hensels, I Zorn, et al.Biochimica Et Biophysica Acta|April 24, 1995
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathyL G Nijtmans, P G Barth, C R Lincke, et al.Journal of Neurology, Neurosurgery, and Psychiatry|April 1, 1997
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1G J Jöbsis, J W Weber, P G Barth, et al.Journal of the Neurological Sciences|May 1, 1995
Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspectsG J Jöbsis, E S Louwerse, M de Visser, et al.Human Genetics|February 1, 1994
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsiesE C Mariman, A A Gabreëls-Festen, S E van Beersum, et al.Neuromuscular Disorders : NMD|July 23, 1998
A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophyA J van der Kooi, M de Visser, M van Meegen, et al.Pageof 14