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Human Molecular Genetics|October 1, 1994
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletionJ Poulton, K Morten, C Freeman-Emmerson, et al.Human Immunology|May 1, 1988
C4 complement allotypes in juvenile dermatomyositisS A Robb, A H Fielder, C E Saunders, et al.Human Genetics|May 31, 2001
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMAL A Skordis, M G Dunckley, L Burglen, et al.Neuromuscular Disorders : NMD|November 2, 1999
Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin statusE Mercuri, J Gruter-Andrew, J Philpot, et al.Human Genetics|April 1, 1997
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophyI Naom, M D'Alessandro, C Sewry, et al.American Journal of Human Genetics|September 1, 1992
Dystrophin in frameshift deletion patients with Becker muscular dystrophyS B Gangopadhyay, T G Sherratt, J Z Heckmatt, et al.Genomics|February 1, 1992
Linkage analysis of spinal muscular atrophyR J Daniels, N H Thomas, R N MacKinnon, et al.Neuromuscular Disorders : NMD|November 1, 1995
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysisC Wallgren-Pettersson, K Avela, S Marchand, et al.Neurology|December 1, 1990
Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q)T L Munsat, L Skerry, B Korf, et al.Journal of Medical Genetics|February 1, 1995
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null alleleR J Daniels, L Campbell, N R Rodrigues, et al.Pageof 24