Showing results (131-140 of 198) with videos related to

Sort By:
Pageof 20
Human Genetics|August 1, 1996
X-linked myotubular myopathy: refinement of the gene to a 280-kb region with new and highly informative microsatellite markersL J Hu, J Laporte, P Kioschis, et al.
Neurobiology of Disease|March 9, 1999
Heterogeneous intracellular localization and expression of ataxin-3Y Trottier, G Cancel, I An-Gourfinkel, et al.
Human Genetics|January 1, 1985
Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X siteM G Mattei, M A Baeteman, R Heilig, et al.
Molecular Medicine (Cambridge, Mass.)|January 1, 1996
Mutation detection in Machado-Joseph disease using repeat expansion detectionK Lindblad, A Lunkes, P Maciel, et al.
Annals of Neurology|April 1, 1996
Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1L G Goldfarb, O Vasconcelos, F A Platonov, et al.
The New England Journal of Medicine|October 17, 1996
Clinical and genetic abnormalities in patients with Friedreich's ataxiaA Dürr, M Cossee, Y Agid, et al.
Human Molecular Genetics|October 1, 1995
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear familyN Nadal, M O Rolland, C Tranchant, et al.
Biochemistry|September 3, 2003
The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA bindingS Adinolfi, A Ramos, S R Martin, et al.
The New England Journal of Medicine|March 14, 1985
Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probeI Oberle, G Camerino, R Heilig, et al.
Genomics|January 1, 1996
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197G Auburger, T Ratzlaff, A Lunkes, et al.
Pageof 20