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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.
Pediatric Research|February 1, 1975
Dominantly inherited osteogenesis imperfecta in man: an examination of collagen biosynthesisG Lancaster, H Goldman, C R Scriver, 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.
Molecular Genetics and Metabolism|March 18, 2000
Characterization of phenylketonuria missense substitutions, distant from the phenylalanine hydroxylase active site, illustrates a paradigm for mechanism and potential modulation of phenotypeP J Waters, M A Parniak, B R Akerman, et al.
Molecular Genetics and Metabolism|April 18, 2000
A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemiaC N Sarkissian, D M Boulais, J D McDonald, et al.
Pediatrics|June 1, 1983
A perimortem protocol for suspected genetic diseaseJ B Kronick, C R Scriver, P R Goodyer, et al.
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