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Journal of Medical Genetics|February 1, 1997
Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394I N Day, L Haddad, S D O'Dell, et al.Journal of Medical Genetics|February 1, 1997
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkageE Gausden, B Coyle, J A Armour, et al.Journal of Medical Genetics|February 1, 1997
Androgen insensitivity with mental retardation: a contiguous gene syndrome?H R Davies, I A Hughes, M O Savage, et al.Journal of Medical Genetics|November 1, 1996
The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrixW G Cole, C W Chow, J F Bateman, et al.Journal of Medical Genetics|July 1, 1995
Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor geneR Whittall, V Gudnason, G P Weavind, et al.Journal of Medical Genetics|July 1, 1995
Emotional and functional impact of DNA testing on patients with symptoms of Huntington's diseaseJ Jankovic, J Beach, T AshizawaJournal of Medical Genetics|July 1, 1995
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiencyP J Hallam, D S Millar, M Krawczak, et al.Journal of Medical Genetics|July 1, 1995
Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?M A Sabry, Q al-Saleh, R al-Saw'an, et al.Journal of Medical Genetics|July 1, 1995
Cerebellar atrophy in a patient with velocardiofacial syndromeD R Lynch, D M McDonald-McGinn, E H Zackai, et al.Journal of Medical Genetics|November 1, 1995
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7S Langlois, S L Yong, R D Wilson, et al.Pageof 649