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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.
Journal of Inherited Metabolic Disease|January 1, 1983
Histidinaemia. Part II: Impact; a retrospective studyA Rosenmann, C R Scriver, C L Clow, et al.
Metabolism: Clinical and Experimental|October 1, 1986
Plasma free amino acid values in normal children and adolescentsD M Gregory, D Sovetts, C L Clow, et al.
American Journal of Human Genetics|August 1, 1994
Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutationsR Rozen, A Mascisch, M Lambert, et al.
Science (New York, N.Y.)|May 26, 1978
Genetics and Medicine: an evolving relationshipC R Scriver, C Laberge, C L Clow, et al.
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