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Journal of Medical Genetics|August 18, 2016
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutationsPaulo Marcio Yamaguti, Francisco de Assis Rocha Neves, Dominique Hotton, et al.Journal of Medical Genetics|April 1, 1988
Application of linkage analysis to genetic counselling in families with hereditary retinoblastomaV Greger, S Kerst, E Messmer, et al.Journal of Medical Genetics|February 1, 1982
An epidemiological and genetic study of facial clefting in France. I. Epidemiology and frequency in relativesC Bonaiti, M L Briard, J Feingold, et al.Journal of Medical Genetics|December 1, 1980
Interstitial deletion of the long arm of chromosome 5 in a deformed boy: 46,XY,del(5)(q13q15)C Stoll, J Levy, M P RothJournal of Medical Genetics|August 1, 1980
Pitfalls of genetic counselling in Pfeiffer's syndromeM Baraitser, M Bowen-Bravery, P Saldaña-GarciaJournal of Medical Genetics|August 1, 1980
Menkes X linked disease: two clonal cell populations in heterozygotesN Horn, P Mooy, V M McGuireJournal of Medical Genetics|August 1, 1980
A family with diaphyseal aclasis and peripheral dysostosisA P Brooks, R Wynne-DaviesJournal of Medical Genetics|August 1, 1980
Segregation of an X ring chromosome in two generationsB Dallapiccola, L Bruni, B Boscherini, et al.Journal of Medical Genetics|August 1, 1984
Familial hidradenitis suppurativa: evidence in favour of single gene transmissionJ S Fitzsimmons, E M Fitzsimmons, G GilbertJournal of Medical Genetics|August 1, 1984
Deletion of the short arm of chromosome 3: a case report with necropsy findingsD Beneck, M J Suhrland, R Dicker, et al.Pageof 649