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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.
Genetic Counseling (Geneva, Switzerland)|January 1, 1990
Fertility in couples heterozygous for the tyrosinemia gene in Saguenay Lac-St-JeanM De Braekeleer, V Lamarre, C R Scriver, et al.
Pediatric Neurology|May 1, 1994
Magnetic resonance spectroscopy in Niemann-Pick disease type C: correlation with diagnosis and clinical response to cholestyramine and lovastatinM Sylvain, D L Arnold, C R Scriver, et al.
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