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Journal of Medical Genetics|February 1, 1997
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosisL C Wilson, M E Oude Luttikhuis, M Baraitser, et al.
Clinical Dysmorphology|April 1, 1997
A syndrome of brachyphalangy, polydactyly and absent tibiaeM Baraitser, F Stewart, R M Winter, et al.
Journal of Medical Genetics|March 1, 1989
Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studiesM A Patton, F Giannelli, A J Francis, et al.
Archives of Disease in Childhood|August 1, 1978
Neurological abnormalities in patients treated for hypothyroidism from early lifeR Macfaul, S Dorner, E M Brett, et al.
Neuropediatrics|November 1, 1990
Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblingsM G Harbord, S Boyd, M A Hall-Craggs, et al.
American Journal of Human Genetics|December 1, 1991
Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseasesJ Collinge, M Poulter, M B Davis, et al.
Clinical Genetics|May 1, 1992
Lethal congenital erythroderma: a newly recognised genetic disorderJ P Shield, M R Judge, W Reardon, et al.
American Journal of Medical Genetics|August 1, 1994
Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS diseaseW Reardon, A Hockey, P Silberstein, et al.
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