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H R Waterham

Showing results (51-60 of 97) with videos related to

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JIMD Reports|August 26, 2016
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum DisorderC Maxit, I Denzler, D Marchione, et al.
Advances in Experimental Medicine and Biology|January 11, 2002
Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicityA B van Kuilenburg, J Haasjes, H Van Lenthe, et al.
Biochemical Society Transactions|May 18, 2001
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseasesR J Wanders, P Vreken, S Ferdinandusse, et al.
Annals of Human Genetics|August 14, 2003
Smith-Lemli-Opitz syndrome and the DHCR7 geneP E Jira, H R Waterham, R J A Wanders, et al.
Molecular Genetics and Metabolism|August 17, 2011
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADDC M Westermann, L Dorland, O P van Diggelen, et al.
Human Molecular Genetics|April 18, 2000
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's diseaseG A Jansen, E M Hogenhout, S Ferdinandusse, et al.
Clinical Genetics|September 1, 2017
Development and validation of a severity scoring system for Zellweger spectrum disordersF C C Klouwer, A Meester-Delver, F M Vaz, et al.
Neurology|December 11, 2002
Biochemical markers predicting survival in peroxisome biogenesis disordersJ Gootjes, P A W Mooijer, C Dekker, et al.
Journal of Inherited Metabolic Disease|February 22, 2012
Clinical variability of isovaleric acidemia in a genetically homogeneous populationM Dercksen, M Duran, L Ijlst, et al.
Neurology|March 31, 2012
MRI as diagnostic tool in early-onset peroxisomal disordersM S van der Knaap, E Wassmer, N I Wolf, et al.
Pageof 10

Showing results (51-60 of 97) with videos related to

Sort By:
Pageof 10
JIMD Reports|August 26, 2016
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum DisorderC Maxit, I Denzler, D Marchione, et al.
Advances in Experimental Medicine and Biology|January 11, 2002
Dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil associated toxicityA B van Kuilenburg, J Haasjes, H Van Lenthe, et al.
Biochemical Society Transactions|May 18, 2001
Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseasesR J Wanders, P Vreken, S Ferdinandusse, et al.
Annals of Human Genetics|August 14, 2003
Smith-Lemli-Opitz syndrome and the DHCR7 geneP E Jira, H R Waterham, R J A Wanders, et al.
Molecular Genetics and Metabolism|August 17, 2011
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADDC M Westermann, L Dorland, O P van Diggelen, et al.
Human Molecular Genetics|April 18, 2000
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's diseaseG A Jansen, E M Hogenhout, S Ferdinandusse, et al.
Clinical Genetics|September 1, 2017
Development and validation of a severity scoring system for Zellweger spectrum disordersF C C Klouwer, A Meester-Delver, F M Vaz, et al.
Neurology|December 11, 2002
Biochemical markers predicting survival in peroxisome biogenesis disordersJ Gootjes, P A W Mooijer, C Dekker, et al.
Journal of Inherited Metabolic Disease|February 22, 2012
Clinical variability of isovaleric acidemia in a genetically homogeneous populationM Dercksen, M Duran, L Ijlst, et al.
Neurology|March 31, 2012
MRI as diagnostic tool in early-onset peroxisomal disordersM S van der Knaap, E Wassmer, N I Wolf, et al.
Pageof 10