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ABOUT JoVE

Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

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P J Waters

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Human Mutation|December 29, 1999

PAHdb: a locus-specific knowledgebaseC R Scriver, P J Waters, C Sarkissian, et al.

European Journal of Human Genetics : EJHG|October 22, 1998

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experienceK C Carter, S Byck, P J Waters, et al.

Neuropediatrics|February 6, 2010

Intracranial calcification after cord blood neonatal transplantation for krabbe diseaseA M Lehman, K R Schultz, K Poskitt, et al.

Journal of Inherited Metabolic Disease|December 25, 2004

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathyN Makhseed, H D Vallance, M Potter, et al.

Neurology|February 4, 2012

Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assaysP J Waters, A McKeon, M I Leite, et al.

Journal of Inherited Metabolic Disease|August 7, 2023

Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1K van Vliet, A M Dijkstra, M J Bouva, et al.

Pageof 3

Search research articles

Showing results (21-30 of 26) with videos related to

Sort By:

Pageof 3

You have reached the last page of results.This site can display upto 26 results.

Human Mutation|December 29, 1999

PAHdb: a locus-specific knowledgebaseC R Scriver, P J Waters, C Sarkissian, et al.

European Journal of Human Genetics : EJHG|October 22, 1998

Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experienceK C Carter, S Byck, P J Waters, et al.

Neuropediatrics|February 6, 2010

Intracranial calcification after cord blood neonatal transplantation for krabbe diseaseA M Lehman, K R Schultz, K Poskitt, et al.

Journal of Inherited Metabolic Disease|December 25, 2004

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathyN Makhseed, H D Vallance, M Potter, et al.

Neurology|February 4, 2012

Serologic diagnosis of NMO: a multicenter comparison of aquaporin-4-IgG assaysP J Waters, A McKeon, M I Leite, et al.

Journal of Inherited Metabolic Disease|August 7, 2023

Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1K van Vliet, A M Dijkstra, M J Bouva, et al.

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