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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.American Journal of Respiratory Cell and Molecular Biology|March 1, 2000
Pulmonary hypoplasia in the myogenin null mouse embryoB S Tseng, S T Cavin, F W Booth, et al.The Journal of Pediatrics|June 1, 1975
Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasiaF T Saulsbury, J A Winkelstein, L E Davis, et al.The Journal of Pediatrics|January 1, 1987
Folinic acid therapy in treatment of dihydropteridine reductase deficiencyM Irons, H L Levy, M E O'Flynn, 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|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.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.Pageof 21