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Human Genetics|March 1, 1994
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrixD L Rimoin, I M Rasmussen, M D Briggs, et al.Archives of Pathology & Laboratory Medicine|October 1, 1990
Neonatal intracranial choriocarcinomaS A Chandra, E F Gilbert, C Viseskul, et al.American Journal of Nephrology|September 1, 1983
Secondary oxalosis as a complication of parenteral alimentation in acute renal failureA L Friedman, R W Chesney, E F Gilbert, et al.European Journal of Pediatrics|September 1, 1976
Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infantsE F Gilbert, J M Opitz, J W Spranger, et al.Pediatric Radiology|January 1, 1982
Congenital generalized fibromatosis. Case report and literature reviewP W Brill, D R Yandow, L O Langer, et al.Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.Nature Genetics|July 3, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromeN Braverman, P Lin, F F Moebius, et al.The Annals of Thoracic Surgery|August 1, 1984
Total lymphatic irradiation and bone marrow in human heart transplantationD R Kahn, R Hong, A J Greenberg, et al.American Journal of Diseases of Children (1960)|November 1, 1984
Renal-nonresponsive, bone-responsive pseudohypoparathyroidism. A case with normal vitamin D metabolite levels and clinical features of ricketsS Dabbagh, R W Chesney, L O Langer, et al.American Journal of Medical Genetics|January 1, 1979
Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal diseaseB R Elejalde, J Holguin, A Valencia, et al.Pageof 59