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Human Molecular Genetics|August 7, 2001
SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell typesG Yvert, K S Lindenberg, D Devys, et al.Human Genetics|September 1, 1987
Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27I Oberlé, G Camerino, K Wrogemann, et al.Human Molecular Genetics|October 13, 2000
Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic miceG Yvert, K S Lindenberg, S Picaud, et al.Human Molecular Genetics|September 16, 1998
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to humanJ Laporte, F Blondeau, A Buj-Bello, et al.American Journal of Medical Genetics|April 1, 1992
Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic associationI Oberlé, J Boué, M F Croquette, et al.Human Molecular Genetics|September 1, 1997
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathyB M de Gouyon, W Zhao, J Laporte, et al.American Journal of Human Genetics|March 1, 1990
The red-green visual pigment gene region in adrenoleukodystrophyP Aubourg, R Feil, S Guidoux, et al.Human Genetics|January 1, 1985
DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosomeM G Mattei, N Philip, E Passage, et al.Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie|January 1, 1994
Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellitesG Sirugo, F Duclos, R Fujita, et al.Human Genetics|February 1, 1995
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) geneA Barceló, M Girós, C O Sarde, et al.Pageof 20