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American Journal of Medical Genetics|April 1, 1992
Methylation and mutation patterns in the fragile X syndromeH Malmgren, M L Steén-Bondeson, K H Gustavson, et al.Clinical Chemistry|June 3, 1999
A two-year study of microscopic urinalysis competency using the urinalysis-review computer programM L Astion, S Kim, A Nelson, et al.Nature Genetics|May 1, 1995
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated formY Trottier, D Devys, G Imbert, et al.Nature Genetics|February 1, 1995
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer proteinK Ouahchi, M Arita, H Kayden, et al.JID Innovations : Skin Science From Molecules to Population Health|October 28, 2025
Increased Risk of Postoperative Complications in Patients with Hypertension Undergoing Mohs Micrographic SurgeryAlexandra Elder, Henry Y Yang, Megan O'Donnell-Cappelli, et al.Nature|February 25, 1993
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersJ Mosser, A M Douar, C O Sarde, et al.Nature Genetics|June 1, 1996
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeastJ Laporte, L J Hu, C Kretz, et al.Human Molecular Genetics|February 1, 1994
The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane proteinJ Mosser, Y Lutz, M E Stoeckel, et al.American Journal of Human Genetics|December 1, 1992
Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locusS Belal, K Panayides, G Sirugo, et al.Human Genetics|March 1, 1988
Multilocus analysis of the fragile X syndromeW T Brown, A Gross, C Chan, et al.Pageof 169