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Archives of Disease in Childhood|March 1, 1981
Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3C R Scriver, T Reade, F Halal, et al.Journal of Inherited Metabolic Disease|January 1, 1988
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineB Lemieux, C Auray-Blais, R Giguère, et al.The Biochemical Journal|December 15, 1976
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolitesO A Mamer, S S Tjoa, C R Scriver, et al.Human Mutation|October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)P J Waters, M A Parniak, A S Hewson, et al.Proceedings of the National Academy of Sciences of the United States of America|December 1, 1976
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) ricketsE M Eicher, J L Southard, C R Scriver, et al.The New England Journal of Medicine|November 2, 1978
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone diseaseC R Scriver, T M Reade, H F DeLuca, et al.Lancet (London, England)|December 11, 1971
A "new" disorder of isoleucine catabolismR S Daum, P H Lamm, O A Mamer, et al.American Journal of Human Genetics|May 1, 1990
Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutationsS W John, R Rozen, C R Scriver, et al.Molecular Genetics and Metabolism|August 15, 1998
Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypesJ Poudrier, F Lettre, C R Scriver, et al.American Journal of Human Genetics|December 1, 1989
Novel PKU mutation on haplotype 2 in French-CanadiansS W John, R Rozen, R Laframboise, et al.Pageof 129