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Journal of Medical Genetics|January 20, 2017
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literatureM Balasubramanian, J Willoughby, A E Fry, et al.Journal of Medical Genetics|August 1, 1989
Linkage analysis of French families with facioscapulohumeral muscular dystrophyG Lucotte, S Berriche, M FardeauJournal of Medical Genetics|August 1, 1989
Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)I K Temple, M BaraitserJournal of Medical Genetics|September 10, 2003
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countriesH P H Neumann, M Salzmann, B Bohnert-Iwan, et al.Journal of Medical Genetics|August 16, 2003
New approaches to investigating heterogeneity in complex traitsR Bomprezzi, P E Kovanen, R MartinJournal of Medical Genetics|August 16, 2003
Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancerP Watson, S A Narod, R Fodde, et al.Journal of Medical Genetics|October 1, 1992
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7pL A Brueton, L van Herwerden, K A Chotai, et al.Journal of Medical Genetics|October 1, 1992
Screening and genetic counselling for relatives of patients with breast cancer in a family cancer clinicR S Houlston, L Lemoine, E McCarter, et al.Journal of Medical Genetics|October 1, 1992
Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13qC A Brandt, J M Hertz, M B Petersen, et al.Journal of Medical Genetics|October 1, 1992
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24)M Le Merrer, K Ben Othmane, V Stanescu, et al.Pageof 649