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Journal of Medical Genetics|December 20, 2003
Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defectsT C Hart, P S Hart, M C Gorry, et al.Journal of Medical Genetics|February 6, 2004
The allelic modulation of apolipoprotein E expression by oestrogen: potential relevance for Alzheimer's diseaseJ-C Lambert, N Coyle, C LendonJournal of Medical Genetics|February 6, 2004
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12L De Meirleir, S Seneca, W Lissens, et al.Journal of Medical Genetics|July 6, 2004
The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutationsJ R Howe, M G Sayed, A F Ahmed, et al.Journal of Medical Genetics|July 6, 2004
Effects of a cancer genetics education programme on clinician knowledge and practiceK R Blazer, M Grant, S R Sand, et al.Journal of Medical Genetics|February 27, 2004
BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplicationsD P Locke, R Segraves, R D Nicholls, et al.Journal of Medical Genetics|April 3, 2004
Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK populationC L Relton, C S Wilding, M S Pearce, et al.Journal of Medical Genetics|April 3, 2004
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14C Steiner, N Ehtesham, K D Taylor, et al.Journal of Medical Genetics|May 4, 2004
Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genomeA Limongelli, J Schaefer, S Jackson, et al.Journal of Medical Genetics|December 1, 1992
Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative GroupJ R Sampson, L A Janssen, L A SandkuijlPageof 649