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Human Genetics|December 1, 1991
Identification of a mutation in the promoter region of the dystrophin gene in a patient with atypical Becker muscular dystrophyK M Bushby, N J Cleghorn, A Curtis, et al.Journal of Medical Genetics|January 1, 1991
Association of less common cystic fibrosis mutations with a mild phenotypeA Curtis, R Nelson, M Porteous, et al.Journal of Neurology|February 1, 1993
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalitiesK M Bushby, D Gardner-Medwin, L V Nicholson, et al.Journal of Medical Genetics|December 1, 1994
Genetic heterogeneity in hereditary haemorrhagic telangiectasiaM E Porteous, A Curtis, O Williams, et al.Journal of Medical Genetics|February 1, 1993
Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani familyA Curtis, R J Richardson, J Boohene, et al.Genomics|October 1, 1992
The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13)M E Porteous, A Curtis, S Lindsay, et al.Genomics|November 1, 1995
Regional assignment of 30 expressed sequence tags on human chromosome 7 using a somatic cell hybrid panelR J Patel, T J Keen, K H Grzeschik, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|April 1, 1995
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS geneR Y Kim, H Dollfus, T J Keen, et al.Genomics|September 1, 1991
Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment siteT J Keen, C F Inglehearn, D H Lester, et al.The British Journal of Ophthalmology|August 1, 1993
Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic studyA T Moore, F Fitzke, M Jay, et al.Pageof 135