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Journal of Medical Genetics|April 1, 1977
Rapid prenatal diagnosis of the Lesch-Nyhan syndromeD Halley, M J Heukels-DullyJournal of Medical Genetics|April 1, 1977
Reproductive ability of an adult female with Silver-Russell syndromeH K Abramowicz, H M NitowskyJournal of Medical Genetics|April 1, 1977
Recessive form of Freeman-Sheldon's syndrome or 'whistling face',A F Alves, E S AzevedoJournal of Medical Genetics|March 1, 1996
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagenW G Cole, T P LamJournal of Medical Genetics|March 1, 1996
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of XpE Hatchwell, D Robinson, J A Crolla, et al.Journal of Medical Genetics|March 1, 1996
Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndromeK Devriendt, L D'Espallier, J P FrynsJournal of Medical Genetics|March 1, 1996
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophyU Felbor, H Stöhr, T Amann, et al.Journal of Medical Genetics|March 1, 1996
Cytogenetic and clinical characteristics of a case involving complete duplication of Xpter-->Xq13S M Jalal, R Dahl, L Erickson, et al.Journal of Medical Genetics|March 1, 1996
A new deletion of 18q23 with few typical features of the 18q- syndromeM Kohonen-Corish, G Strathdee, J Overhauser, et al.Journal of Medical Genetics|March 1, 1996
Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysisR Almeida, P Fidalgo, E Ramalho, et al.Pageof 649