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Clinical Dysmorphology|April 18, 1998
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)J Amiel, P M Watkin, M Tassabehji, et al.
European Journal of Human Genetics : EJHG|November 26, 1999
A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndromeM Tassabehji, M Carette, C Wilmot, et al.
Journal of Medical Genetics|July 1, 1987
Wolf-Hirschhorn locus is distal to D4S10 on short arm of chromosome 4C McKeown, A P Read, A Dodge, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition|June 24, 2003
Noise levels within the ear and post-nasal space in neonates in intensive careS S Surenthiran, K Wilbraham, J May, et al.
Journal of Medical Genetics|December 1, 1986
A register based system for gene tracking in Duchenne muscular dystrophyA P Read, L Kerzin-Storrar, R C Mountford, et al.
American Journal of Human Genetics|July 1, 1991
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5M J Dixon, A P Read, D Donnai, et al.
Zeitschrift Fur Kinderchirurgie : Organ Der Deutschen, Der Schweizerischen Und Der Osterreichischen Gesellschaft Fur Kinderchirurgie = Surgery in Infancy and Childhood|December 1, 1988
A survey of neural tube defect pregnancies in north-west EnglandS H Bernard, J P Walsworth-Bell, M Super, 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.
Lancet (London, England)|October 3, 1987
Clinic experience of prenatal diagnosis of cystic fibrosis by use of linked DNA probesM Super, A Ivinson, M Schwarz, et al.
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