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Journal of Medical Genetics|November 1, 1990
Ankyloblepharon filiforme adnatum in trisomy 18 Edwards syndromeD G Evans, I D Evans, D Donnai, et al.Journal of Medical Genetics|October 1, 1981
Antenatal diagnosis of Niemann-Pick disease in a twin pregnancyP Donnai, D Donnai, R Harris, et al.Journal of Medical Genetics|November 5, 2002
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine modelsE Elson, R Perveen, D Donnai, et al.American Journal of Medical Genetics|February 5, 1998
Choanal atresia and hypothelia following methimazole exposure in utero: a second reportL C Wilson, B A Kerr, R Wilkinson, et al.Nature Genetics|November 1, 1994
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) geneM Tassabehji, V E Newton, A P ReadHuman Molecular Genetics|July 1, 1997
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3S A Feather, A S Woolf, D Donnai, et al.American Journal of Medical Genetics|October 1, 1983
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identityR M Winter, M Baraitser, K M Laurence, et al.European Journal of Human Genetics : EJHG|February 15, 2001
Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.American Journal of Medical Genetics|May 15, 1994
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)L O Langer, R J Gorlin, D Donnai, et al.American Journal of Medical Genetics|January 2, 1995
Waardenburg syndrome type II: phenotypic findings and diagnostic criteriaX Z Liu, V E Newton, A P ReadPageof 19