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American Journal of Human Genetics|December 5, 1998
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutationsS Jacquot, K Merienne, D De Cesare, et al.
Neuromuscular Disorders : NMD|October 12, 2001
Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture systemO M Dorchies, J Laporte, S Wagner, et al.
American Journal of Human Genetics|April 16, 1998
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of familiesL Cavalier, K Ouahchi, H J Kayden, et al.
Journal Francais D'Ophtalmologie|March 16, 2005
[Update on Bardet-Biedl syndrome]H Dollfus, A Verloes, D Bonneau, et al.
Genomics|July 1, 1994
Genomic organization of the adrenoleukodystrophy geneC O Sarde, J Mosser, P Kioschis, et al.
Human Molecular Genetics|May 1, 1995
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell cultureE W Khandjian, A Fortin, A Thibodeau, et al.
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