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Matrix Biology : Journal of the International Society for Matrix Biology|July 27, 2001
Calreticulin, PDI, Grp94 and BiP chaperone proteins are associated with retained COMP in pseudoachondroplasia chondrocytesJ T Hecht, E Hayes, M Snuggs, et al.Genomics|December 1, 1993
Linkage of typical pseudoachondroplasia to chromosome 19J T Hecht, C A Francomano, M D Briggs, et al.Nature Genetics|September 1, 1993
A type X collagen mutation causes Schmid metaphyseal chondrodysplasiaM L Warman, M Abbott, S S Apte, et al.American Journal of Human Genetics|April 1, 1992
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypesG A Greenhaw, A Hebert, M E Duke-Woodside, et al.American Journal of Human Genetics|August 1, 1995
Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational familiesJ Stein, J B Mulliken, S Stal, et al.The New England Journal of Medicine|July 19, 1984
Progressive neurologic deterioration and renal failure due to storage of glutamyl ribose-5-phosphateJ C Williams, I J Butler, H S Rosenberg, et al.Clinical Genetics|February 1, 1982
Three distinct types of X-linked arthrogryposis seen in 6 familiesJ G Hall, S D Reed, C I Scott, et al.Clinical Genetics|July 1, 1975
A dominant syndrome of metacarpal and metatarsal asymmetry with tarsal and carpal fusions, syndactyly, articular dysplasia and platyspondylyJ C Christian, E A Franken, J P Lindeman, et al.Nature Genetics|July 1, 1995
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasiaG A Bellus, I McIntosh, E A Smith, et al.American Journal of Human Genetics|January 11, 1991
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasiaJ E Finkelstein, K Doege, Y Yamada, et al.Pageof 14