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Health Technology Assessment (Winchester, England)|March 23, 2001
An assessment of screening strategies for fragile X syndrome in the UKM E Pembrey, A J Barnicoat, B Carmichael, et al.Human Mutation|January 1, 1995
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patientsE Boye, F Flinter, J Zhou, et al.Journal of Medical Screening|October 1, 1994
Monitoring trends in prenatal diagnosis of Down's syndrome in England and Wales, 1989-92J K Morris, D E Mutton, R Ide, et al.Journal of Medical Genetics|September 1, 1994
FISH detection of trisomy 21 in interphase by the simultaneous use of two differentially labelled cosmid contigsA F Davies, L Barber, M Murer-Orlando, et al.Lancet (London, England)|October 29, 1988
Genetics of classic Alport's syndromeF A Flinter, J S Cameron, C Chantler, et al.American Journal of Human Genetics|October 1, 1995
The natural history of Down syndrome conceptuses diagnosed prenatally that are not electively terminatedE B Hook, D E Mutton, R Ide, et al.Journal of Medical Genetics|May 1, 1991
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methodsS Abbs, S C Yau, S Clark, et al.Journal of Medical Genetics|May 1, 1989
Fertility in a male with trisomy 21R Sheridan, J Llerena, S Matkins, et al.Human Genetics|January 1, 1985
Two cases of X/autosome translocation in females with incontinentia pigmentiS V Hodgson, B Neville, R W Jones, et al.Biochemical Genetics|October 1, 1980
Assignment to chromosome 16 of a gene necessary for the expression of human mitochondrial glutamate oxaloacetate transaminase (aspartate aminotransferase) (E.C. 2.6.1.1.)E Tolley, V van Heyningen, R Brown, et al.Pageof 423