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Human Genetics|September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM intervalB Fontaine, S Nicole, H Topaloglu, et al.American Journal of Human Genetics|February 17, 2001
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinM E Brunkow, J C Gardner, J Van Ness, et al.American Journal of Human Genetics|April 28, 2001
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger, V Tiziani, S Watanabe, et al.American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.Pageof 23