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European Journal of Medical Genetics|May 4, 2019
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanismsA Redwood, S Douzgou, S Waller, et al.Eye (London, England)|June 18, 2016
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approachM Musleh, G Hall, I C Lloyd, et al.Human Reproduction (Oxford, England)|December 20, 2005
Assisted reproductive therapies and imprinting disorders--a preliminary British surveyA G Sutcliffe, C J Peters, S Bowdin, et al.European Journal of Medical Genetics|October 24, 2006
Tall stature and duplication of the insulin-like growth factor I receptor geneS G Kant, M Kriek, M J E Walenkamp, et al.Clinical Dysmorphology|November 14, 1997
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndromeJ Clayton-Smith, B Kerr, H Brunner, et al.Journal of Medical Genetics|June 1, 1997
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndromeS Lindsay, M Ireland, O O'Brien, et al.American Journal of Medical Genetics|January 30, 1995
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)R J Gibbons, L Brueton, V J Buckle, et al.Journal of Medical Genetics|June 3, 1999
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeresA Slavotinek, M Rosenberg, S Knight, et al.Seizure|December 29, 2009
Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled studyG Mawer, M Briggs, G A Baker, et al.Human Mutation|June 18, 2009
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndromeI Balikova, A-E Lehesjoki, T J L de Ravel, et al.Pageof 10