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Journal of Medical Genetics|July 29, 1999
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlationW W Lam, I Hatada, S Ohishi, 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.Clinical Genetics|August 21, 2012
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndromeS Banka, E Howard, S Bunstone, et al.Human Molecular Genetics|July 1, 1994
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouseM Tassabehji, V E Newton, K Leverton, 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.Journal of Medical Genetics|December 24, 1998
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomasC L Wu, N Thakker, W Neary, et al.Human Genetics|July 1, 1992
Three DNA markers for hypophosphataemic ricketsP S Rowe, A P Read, R Mountford, et al.Genes, Chromosomes & Cancer|December 31, 1997
Deletion mapping defines three discrete areas of allelic imbalance on chromosome arm 8p in oral and oropharyngeal squamous cell carcinomasC L Wu, L Roz, P Sloan, et al.Journal of Medical Genetics|February 1, 1994
Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family registerR G Elles, K A Hodgkinson, N P Mallick, et al.Archives of Disease in Childhood|December 1, 1981
Apparent prevention of neural tube defects by periconceptional vitamin supplementationR W Smithells, S Sheppard, C J Schorah, et al.Pageof 19