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Journal of Medical Genetics|December 1, 1975
Trisomy of the short arm of chromosome 10Y Nakagome, H KobayashiJournal of Medical Genetics|September 3, 2002
Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general populationA G Yip, C Brayne, D Easton, et al.Journal of Medical Genetics|September 3, 2002
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the moleculeA J Richards, J Morgan, P W P Bearcroft, et al.Journal of Medical Genetics|June 5, 2001
The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brainJ C Lambert, D M Mann, J M Harris, et al.Journal of Medical Genetics|April 1, 1976
Scalp hair patterns in mental subnormalityT J David, C M OsborneJournal of Medical Genetics|February 1, 1976
New allele at cholinesterase locus 1P J Garry, A A Dietz, T Lubrano, et al.Journal of Medical Genetics|February 1, 1976
Prenatal diagnosis of Wolman's diseaseA D Patrick, P Willcox, R Stephens, et al.Journal of Medical Genetics|October 1, 1992
Sex ratios of affected and transmitting members of multiple case families with neural tube defectsE C Mariman, B C HamelJournal of Medical Genetics|May 15, 2003
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosisP D Turnpenny, N Whittock, J Duncan, et al.Journal of Medical Genetics|July 5, 2003
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9N G Robertson, S A Hamaker, V Patriub, et al.Pageof 649