C R Scriver|T M Reade - JoVE Visualize

Showing results (141-150 of 175) with videos related to

Pageof 18

Sort By:

Genetic Epidemiology|January 1, 1992

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic JewsM J Fernandes, F Kaplan, C L Clow, et al.

Prenatal Diagnosis|July 1, 1997

Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experienceK Sasi, D Sanderson, P Eydoux, et al.

American Journal of Public Health|December 1, 1982

Prevention of mental retardation in offspring of hyperphenylalaninemic mothersL Cartier, C L Clow, A Lippman-Hand, et al.

Journal of Inherited Metabolic Disease|January 1, 1992

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetusD Chitayat, A Balbul, V Hani, et al.

American Journal of Medical Genetics|May 1, 1990

Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicineB R Akerman, T M Fujiwara, G A Lancaster, et al.

American Journal of Human Genetics|December 18, 1997

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlationsE Kayaalp, E Treacy, P J Waters, et al.

Journal of Inherited Metabolic Disease|January 1, 1983

Histidinaemia. Part III: Impact; a prospective studyJ T Coulombe, B L Kammerer, H L Levy, et al.

American Journal of Human Genetics|September 1, 1984

Beta-thalassemia disease prevention: genetic medicine appliedC R Scriver, M Bardanis, L Cartier, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1980

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis"C R Scriver, D E Cole, S A Houghton, et al.

Bone|January 31, 2004

Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp miceZ Q Qiu, R Travers, F Rauch, et al.

Pageof 18

Showing results (141-150 of 175) with videos related to

Sort By:

Pageof 18

Genetic Epidemiology|January 1, 1992

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic JewsM J Fernandes, F Kaplan, C L Clow, et al.

Prenatal Diagnosis|July 1, 1997

Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experienceK Sasi, D Sanderson, P Eydoux, et al.

American Journal of Public Health|December 1, 1982

Prevention of mental retardation in offspring of hyperphenylalaninemic mothersL Cartier, C L Clow, A Lippman-Hand, et al.

Journal of Inherited Metabolic Disease|January 1, 1992

Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetusD Chitayat, A Balbul, V Hani, et al.

American Journal of Medical Genetics|May 1, 1990

Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicineB R Akerman, T M Fujiwara, G A Lancaster, et al.

American Journal of Human Genetics|December 18, 1997

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlationsE Kayaalp, E Treacy, P J Waters, et al.

Journal of Inherited Metabolic Disease|January 1, 1983

Histidinaemia. Part III: Impact; a prospective studyJ T Coulombe, B L Kammerer, H L Levy, et al.

American Journal of Human Genetics|September 1, 1984

Beta-thalassemia disease prevention: genetic medicine appliedC R Scriver, M Bardanis, L Cartier, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1980

Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis"C R Scriver, D E Cole, S A Houghton, et al.

Bone|January 31, 2004

Effect of gene dose and parental origin on bone histomorphometry in X-linked Hyp miceZ Q Qiu, R Travers, F Rauch, et al.

Pageof 18