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American Journal of Medical Genetics|September 15, 1992
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndromeJ Clayton-Smith, T Webb, S A Robb, et al.
Lancet (London, England)|February 20, 1988
Risk estimation and screening in families of patients with medullary thyroid carcinomaB A Ponder, M A Ponder, R Coffey, et al.
Journal of Medical Genetics|January 1, 1991
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and reviewK D MacDermot, R M Winter, J S Wigglesworth, et al.
Journal of Medical Genetics|October 1, 1993
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotypeS E Holder, R M Winter, S Kamath, et al.
Clinical Dysmorphology|January 29, 2000
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome?A S Plomp, M Baraitser, S F Slaney, et al.
Journal of Medical Genetics|March 1, 1990
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum?L A Brueton, S M Huson, B Farren, et al.
Human Genetics|January 1, 1983
A maximum likelihood estimate of the sex ratio of mutation rates in haemophilia AR M Winter, E G Tuddenham, E Goldman, et al.
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