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Journal of Inherited Metabolic Disease
|
January 1, 1988
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine
B Lemieux, C Auray-Blais, R Giguère, et al.
The Biochemical Journal
|
December 15, 1976
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites
O A Mamer, S S Tjoa, C R Scriver, et al.
Pediatric Research
|
February 1, 1977
The in vivo use of dithiothreitol in cystinosis
D Depape-Brigger, H Goldman, C R Scriver, et al.
Human Mutation
|
October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)
P J Waters, M A Parniak, A S Hewson, et al.
American Journal of Medical Genetics
|
January 1, 1977
Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance
C R Scriver, W MacDonald, T Reade, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 1, 1976
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets
E M Eicher, J L Southard, C R Scriver, et al.
The New England Journal of Medicine
|
November 2, 1978
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease
C R Scriver, T M Reade, H F DeLuca, et al.
Progress in Clinical and Biological Research
|
January 1, 1977
Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population
E Andermann, C R Scriver, L S Wolfe, et al.
Canadian Medical Association Journal
|
July 7, 1979
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice
F Halal, C R Scriver, D W Cox, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1977
Transepithelial transport of phosphate anion in kidney. Potential mechanisms for hypophosphatemia
C R Scriver, T E Stacey, H S Tenenhouse, et al.
Page
of 32
Search research articles
Search
Showing results (241-250 of 317) with videos related to
Sort By:
Page
of 32
Journal of Inherited Metabolic Disease
|
January 1, 1988
Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine
B Lemieux, C Auray-Blais, R Giguère, et al.
The Biochemical Journal
|
December 15, 1976
Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites
O A Mamer, S S Tjoa, C R Scriver, et al.
Pediatric Research
|
February 1, 1977
The in vivo use of dithiothreitol in cystinosis
D Depape-Brigger, H Goldman, C R Scriver, et al.
Human Mutation
|
October 29, 1998
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)
P J Waters, M A Parniak, A S Hewson, et al.
American Journal of Medical Genetics
|
January 1, 1977
Hypophosphatemic nonrachitic bone disease: an entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance
C R Scriver, W MacDonald, T Reade, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 1, 1976
Hypophosphatemia: mouse model for human familial hypophosphatemic (vitamin D-resistant) rickets
E M Eicher, J L Southard, C R Scriver, et al.
The New England Journal of Medicine
|
November 2, 1978
Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease
C R Scriver, T M Reade, H F DeLuca, et al.
Progress in Clinical and Biological Research
|
January 1, 1977
Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population
E Andermann, C R Scriver, L S Wolfe, et al.
Canadian Medical Association Journal
|
July 7, 1979
Cystathioninuria, renal iminoglycinuria and...alpha 1-antitrypsin...deficiency in the same family: relevance in medical practice
F Halal, C R Scriver, D W Cox, et al.
Advances in Experimental Medicine and Biology
|
January 1, 1977
Transepithelial transport of phosphate anion in kidney. Potential mechanisms for hypophosphatemia
C R Scriver, T E Stacey, H S Tenenhouse, et al.
Page
of 32