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C R Scriver

Showing results (271-280 of 317) with videos related to

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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.
L'Union Medicale Du Canada|April 1, 1972
[Tay-Sachs disease: prenatal detection and diagnosis]E E Delvin, C R Scriver, A Pottier, 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.
The Journal of Pediatrics|November 1, 1987
Nephrocalcinosis and its relationship to treatment of hereditary ricketsP R Goodyer, J B Kronick, S Jequier, et al.
Canadian Journal of Public Health = Revue Canadienne De Sante Publique|March 1, 1987
The Quebec Network of Genetic MedicineM Charbonneau, C Laberge, C R Scriver, 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.
Human Genetics|October 14, 1977
Improved detection of beta-thalassaemia carriers by a two-test methodM Tammis-Hadjopoulos, R J Gold, U R Maag, et al.
Pediatric Research|March 1, 1973
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosisR S Daum, C R Scriver, O A Mamer, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuriaP J Waters, M A Parniak, B R Akerman, et al.
Pageof 32

Showing results (271-280 of 317) with videos related to

Sort By:
Pageof 32
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.
L'Union Medicale Du Canada|April 1, 1972
[Tay-Sachs disease: prenatal detection and diagnosis]E E Delvin, C R Scriver, A Pottier, 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.
The Journal of Pediatrics|November 1, 1987
Nephrocalcinosis and its relationship to treatment of hereditary ricketsP R Goodyer, J B Kronick, S Jequier, et al.
Canadian Journal of Public Health = Revue Canadienne De Sante Publique|March 1, 1987
The Quebec Network of Genetic MedicineM Charbonneau, C Laberge, C R Scriver, 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.
Human Genetics|October 14, 1977
Improved detection of beta-thalassaemia carriers by a two-test methodM Tammis-Hadjopoulos, R J Gold, U R Maag, et al.
Pediatric Research|March 1, 1973
An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosisR S Daum, C R Scriver, O A Mamer, et al.
Journal of Inherited Metabolic Disease|June 29, 1999
Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuriaP J Waters, M A Parniak, B R Akerman, et al.
Pageof 32