C R Scriver|C L Clow - JoVE Visualize

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Oral Surgery, Oral Medicine, and Oral Pathology|September 1, 1988

Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseasesS Schwartz, C R Scriver, T M Reade, et al.

Human Molecular Genetics|September 1, 1994

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populationsS Byck, K Morgan, L Tyfield, et al.

Canadian Medical Association Journal|March 24, 2010

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn InfantC R Scriver, C Clow, E Davies, et al.

Human Mutation|February 5, 1998

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1983

Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acidJ B Kronick, O A Mamer, J Montgomery, et al.

Archives of Disease in Childhood|March 1, 1981

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3C R Scriver, T Reade, F Halal, et al.

Journal of Inherited Metabolic Disease|January 1, 1988

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineB 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 metabolitesO A Mamer, S S Tjoa, C R Scriver, et al.

Pediatric Research|February 1, 1977

The in vivo use of dithiothreitol in cystinosisD 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.

Pageof 18

Showing results (121-130 of 175) with videos related to

Sort By:

Pageof 18

Oral Surgery, Oral Medicine, and Oral Pathology|September 1, 1988

Oral findings in patients with autosomal dominant hypophosphatemic bone disease and X-linked hypophosphatemia: further evidence that they are different diseasesS Schwartz, C R Scriver, T M Reade, et al.

Human Molecular Genetics|September 1, 1994

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populationsS Byck, K Morgan, L Tyfield, et al.

Canadian Medical Association Journal|March 24, 2010

A Commentary on Multiple Screening for Aminoacidopathies in the Newborn InfantC R Scriver, C Clow, E Davies, et al.

Human Mutation|February 5, 1998

In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to functionP J Waters, M A Parniak, P Nowacki, et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1983

Apparent gastrointestinal origin of cis-4-hydroxycyclohexanecarboxylic acidJ B Kronick, O A Mamer, J Montgomery, et al.

Archives of Disease in Childhood|March 1, 1981

Autosomal hypophosphataemic bone disease responds to 1,25-(OH)2D3C R Scriver, T Reade, F Halal, et al.

Journal of Inherited Metabolic Disease|January 1, 1988

Newborn urine screening experience with over one million infants in the Quebec Network of Genetic MedicineB 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 metabolitesO A Mamer, S S Tjoa, C R Scriver, et al.

Pediatric Research|February 1, 1977

The in vivo use of dithiothreitol in cystinosisD 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.

Pageof 18