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Human Genetics|May 1, 1997
A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesisD O Robinson, D J Bunyan, H A Gabb, et al.
Journal of Medical Genetics|May 14, 2008
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndromeH Bullman, M Lever, D O Robinson, et al.
Human Genetics|May 1, 1994
Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophyD J Bunyan, D O Robinson, A L Collins, et al.
Diabetes|August 3, 2000
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetesI K Temple, R J Gardner, D J Mackay, et al.
Journal of Medical Genetics|May 5, 1999
A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndromeD O Robinson, P Dalton, P A Jacobs, et al.
Neuromuscular Disorders : NMD|March 14, 2000
A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathyS R Hammans, D O Robinson, C Moutou, et al.
The Journal of Biological Chemistry|April 12, 2001
Characterization of the methylation-sensitive promoter of the imprinted ZAC gene supports its role in transient neonatal diabetes mellitusA Varrault, B Bilanges, D J Mackay, et al.
Brain : a Journal of Neurology|February 27, 2001
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK populationM E Hill, G A Creed, T F McMullan, et al.
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