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Journal of Medical Genetics|January 1, 1996
Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patientsJ M McGaughran, L Gaunt, J Dore, et al.European Journal of Neurology|November 29, 2013
A novel mutation of SOD-1 (Gly 108 Val) in familial amyotrophic lateral sclerosisR W Orrell, J J Habgood, D I Shepherd, et al.Journal of Medical Genetics|April 1, 1997
Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosisH Fryssira, R Palmer, K A Hallidie-Smith, et al.Lancet (London, England)|April 21, 1979
Antenatal diagnosis of Duchenne muscular dystrophyA E Emery, D Burt, V Dubowitz, et al.Genomics|June 15, 1999
A complete physical contig and partial transcript map of the Williams syndrome critical regionE L Hockenhull, M J Carette, K Metcalfe, et al.Human Molecular Genetics|July 1, 1997
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosisM Tassabehji, K Metcalfe, D Donnai, et al.Clinical Dysmorphology|April 1, 1992
Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3D Donnai, L J Heather, P Sinclair, et al.Journal of Medical Genetics|December 1, 1987
Multiple pterygium syndrome: evolution of the phenotypeE M Thompson, D Donnai, M Baraitser, et al.Human Molecular Genetics|August 15, 2000
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicismC Has, L Bruckner-Tuderman, D Müller, et al.American Journal of Medical Genetics|August 1, 1993
True telomeric translocation in a baby with the Prader-Willi phenotypeA Reeve, A Norman, P Sinclair, et al.Pageof 13