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Journal of Medical Genetics|December 1, 1998
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication studyC Stavropoulou, C Mignon, B Delobel, et al.Journal of Medical Genetics|October 23, 1998
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophyM Votruba, A T Moore, S S BhattacharyaJournal of Medical Genetics|October 23, 1998
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26H G Yntema, B C Hamel, A P Smits, et al.Journal of Medical Genetics|October 23, 1998
Fibroblast silver loading for the diagnosis of Menkes diseaseF W Verheijen, C E Beerens, A C Havelaar, et al.Journal of Medical Genetics|October 23, 1998
Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial cleftingA F Davies, K Imaizumi, G Mirza, et al.Journal of Medical Genetics|October 23, 1998
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?E F Percin, S Percin, H Egilmez, et al.Journal of Medical Genetics|October 23, 1998
Triophthalmia and facial clefting: a case reportS M Tayel, M A Sabry, N A Kader, et al.Journal of Medical Genetics|January 31, 2006
Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locusL de Pontual, A Pelet, D Trochet, et al.Journal of Medical Genetics|February 7, 2006
Mutations of human TMHS cause recessively inherited non-syndromic hearing lossM I Shabbir, Z M Ahmed, S Y Khan, et al.Journal of Medical Genetics|February 10, 2006
Independent replication and initial fine mapping of 3p21-24 in Asperger syndromeK Rehnström, T Ylisaukko-oja, T Nieminen-von Wendt, et al.Pageof 649