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Neurology|August 3, 1999
A SOD1 gene mutation in a patient with slowly progressing familial ALSS Penco, A Schenone, D Bordo, et al.
Cancer Genetics and Cytogenetics|May 1, 1993
Molecular analysis of six variant Philadelphia chromosome translocations in chronic myeloid leukemiaM Sessarego, G Martinelli, A Chiamenti, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1973
NAD(P) glycohydrolase deficiency in human erythrocytes and alteration of cytosol NADH-methemoglobin diaphorase by membrane NAD-glycohydrolase activityH Frischer, R Nelson, C Noyes, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 4, 2005
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPPE Bellone, P Balestra, G Ribizzi, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|January 27, 2004
A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth diseaseL Santoro, F Manganelli, E Di Maria, et al.
Neuroscience Letters|July 14, 1995
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfoldingR James, E Bellone, E Nelis, et al.
European Neurology|January 1, 1994
17p11.2 duplication is a common finding in sporadic cases of Charcot-Marie-Tooth type 1G L Mancardi, A Uccelli, E Bellone, et al.
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