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Journal of Medical Genetics|December 1, 1992
Causes of death in patients with Huntington's disease and in unaffected first degree relativesS A Sørensen, K FengerJournal of Medical Genetics|May 3, 2005
Is maternal duplication of 11p15 associated with Silver-Russell syndrome?T Eggermann, E Meyer, C Obermann, et al.Journal of Medical Genetics|May 3, 2005
Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected familiesA M Woodward, T A Davis, A G S Silva, et al.Journal of Medical Genetics|May 3, 2005
Genetics of congenital hypothyroidismS M Park, V K K ChatterjeeJournal of Medical Genetics|February 1, 1979
Abnormal children of a 47,XYY fatherC Stoll, E Flori, A Clavert, et al.Journal of Medical Genetics|June 1, 1979
Normal phenotype and partial trisomy for the G positive region of chromosome 21A DanielJournal of Medical Genetics|April 5, 2005
Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveysI M Heid, C Vollmert, A Hinney, et al.Journal of Medical Genetics|April 5, 2005
High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descentS W Fouchier, R R Sankatsing, J Peter, et al.Journal of Medical Genetics|April 5, 2005
Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couplesM Ludwig, A Katalinic, S Gross, et al.Journal of Medical Genetics|April 5, 2005
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutationsM G Butler, M J Dasouki, X-P Zhou, et al.Pageof 649