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Human Genetics|September 1, 1993
Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)K E Morrison, R J Daniels, G K Suthers, et al.Journal of Medical Genetics|March 1, 1992
Prenatal prediction of spinal muscular atrophyR J Daniels, G K Suthers, K E Morrison, et al.Neuromuscular Disorders : NMD|June 6, 2000
Minicore myopathy in children: a clinical and histopathological study of 19 casesH Jungbluth, C Sewry, S C Brown, et al.Neuromuscular Disorders : NMD|February 13, 2001
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) geneH Jungbluth, C A Sewry, S C Brown, et al.Journal of Medical Genetics|February 1, 1997
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyI S Naom, M D'Alessandro, H Topaloglu, et al.Neuromuscular Disorders : NMD|July 13, 2012
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvementT Cullup, P J Lamont, S Cirak, et al.Neurology|July 24, 2002
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with coresH Jungbluth, C R Müller, B Halliger-Keller, et al.Proceedings of the National Academy of Sciences of the United States of America|March 3, 1999
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyK Pelin, P Hilpelä, K Donner, et al.Neuromuscular Disorders : NMD|January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathyC Wallgren-Pettersson, K Pelin, P Hilpelä, et al.Nature|July 3, 1986
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophyL M Kunkel, J F Hejtmancik, C T Caskey, et al.Pageof 24