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Clinical Genetics|September 24, 2017
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowthJ H McDermott, N Hickson, I Banerjee, et al.Clinical Genetics|February 21, 2007
Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysisW G Newman, S Hamilton, J Ayres, et al.Journal of Medical Genetics|April 5, 2003
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndromeK E Chandler, A Kidd, L Al-Gazali, et al.American Journal of Medical Genetics|August 15, 2001
De novo deletion of chromosome 18q in a baby with harlequin ichthyosisH Stewart, P T Smith, L Gaunt, et al.Lancet (London, England)|March 23, 1991
Uniparental paternal disomy in Angelman's syndromeS Malcolm, J Clayton-Smith, M Nichols, et al.American Journal of Medical Genetics|October 1, 1993
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndromeJ Clayton-Smith, D J Driscoll, M F Waters, et al.Clinical Genetics|September 8, 2011
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalitiesD O Robinson, F Lin, M Lyon, et al.Clinical Dysmorphology|July 1, 1994
Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemiaD G Evans, H C Rees, A Spreadborough, et al.American Journal of Medical Genetics|September 15, 1992
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndromeJ Clayton-Smith, T Webb, S A Robb, et al.Human Mutation|December 19, 2001
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individualsN Elanko, J S Sibbring, K A Metcalfe, et al.Pageof 10