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Journal of Medical Genetics|December 7, 2007
Alpha7 nicotinic acetylcholine receptor gene and reduced risk of Alzheimer's diseaseR Carson, D Craig, B McGuinness, et al.Journal of Medical Genetics|May 9, 2008
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disordersM Morleo, B FrancoJournal of Medical Genetics|March 1, 1991
Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish populationE C Landels, I H Ellis, A H Fensom, et al.Journal of Medical Genetics|April 17, 2008
Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancersD G Evans, K N Gaarenstroom, D Stirling, et al.Journal of Medical Genetics|April 17, 2008
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genesS Monfort, M Roselló, C Orellana, et al.Journal of Medical Genetics|April 22, 2008
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigeneC Bonnet, S Krieger, M Vezain, 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.Journal of Medical Genetics|December 24, 1998
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)G C Black, R Perveen, E Hatchwell, et al.Journal of Medical Genetics|December 24, 1998
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysisS W Knight, T J Vulliamy, N S Heiss, et al.Journal of Medical Genetics|December 24, 1998
Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28T Webb, A Clarke, F Hanefeld, et al.Pageof 649