Showing results (61-70 of 198) with videos related to
Sort By:
Pageof 20
Human Mutation|September 30, 1999
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathyA Buj-Bello, V Biancalana, C Moutou, et al.Genomics|November 23, 2000
Characterization of the adrenoleukodystrophy-related (ALDR, ABCD2) gene promoter: inductibility by retinoic acid and forskolinA Pujol, N Troffer-Charlier, E Metzger, et al.Nature Genetics|August 1, 1993
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutationD Devys, Y Lutz, N Rouyer, et al.American Journal of Medical Genetics|July 15, 1994
Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream regionY Trottier, G Imbert, A Poustka, et al.Experimental Neurology|April 1, 1994
Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locusA Lunkes, L G Goldfarb, F A Platonov, et al.Human Genetics|October 1, 1988
Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal markerA Hanauer, Y Alembik, B Arveiler, et al.Nature|February 14, 1991
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresisA Vincent, D Heitz, C Petit, et al.Proceedings of the National Academy of Sciences of the United States of America|February 6, 1996
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression patternG Lombard-Platet, S Savary, C O Sarde, et al.American Journal of Human Genetics|May 1, 1990
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndromeB Arveiler, G de Saint-Basile, A Fischer, et al.The EMBO Journal|September 5, 2001
The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motifC Schaeffer, B Bardoni, J L Mandel, et al.Pageof 20