Showing results (101-110 of 1,285) with videos related to
Sort By:
Pageof 129
Human Mutation|January 1, 1992
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locusS W John, C R Scriver, R Laframboise, et al.Human Genetics|October 1, 1987
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotesC R Scriver, C L Clow, P Kaplan, et al.American Journal of Medical Genetics|August 1, 1984
A private view of heterozygosity: eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in MontrealS Zeesman, C L Clow, L Cartier, et al.The Journal of Clinical Investigation|November 1, 1971
Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypesF H Glorieux, C R Scriver, E Delvin, et al.Canadian Medical Association Journal|May 5, 1973
The frequency of genetic disease and congenital malformation among patients in a pediatric hospitalC R Scriver, J L Neal, R Saginur, et al.Proceedings of the National Academy of Sciences of the United States of America|November 1, 1987
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblastsD W Smith, C R Scriver, H S Tenenhouse, et al.American Journal of Human Genetics|May 1, 1989
Prolidase deficiency: biochemical classification of allelesA P Boright, C R Scriver, G A Lancaster, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|June 15, 1977
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytesR Rozen, S Buhl, F Mohyuddin, et al.American Journal of Medical Genetics|May 1, 1990
Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: paradigm of pitfalls in phenotypesJ J McGill, G Mettler, D S Rosenblatt, et al.American Journal of Human Genetics|January 1, 1990
Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomesF Kaplan, G Kokotsis, M DeBraekeleer, et al.Pageof 129