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American Journal of Human Genetics|October 1, 1992
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasiaW A Sweetman, B Rash, B Sykes, et al.American Journal of Human Genetics|May 11, 1992
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortiumL A Farrer, K M Grundfast, J Amos, et al.American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.American Journal of Human Genetics|September 6, 2001
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumO Le Saux, K Beck, C Sachsinger, et al.Nature Genetics|December 2, 2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)S Nicole, C S Davoine, H Topaloglu, et al.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 24