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H R Waterham

Showing results (71-80 of 97) with videos related to

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Journal of Inherited Metabolic Disease|January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfallR J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.
Human Genetics|September 10, 1999
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiencyF M Vaz, H R Scholte, J Ruiter, et al.
Current Genetics|August 1, 1995
Characterization of peroxisome-deficient mutants of Hansenula polymorphaX Tan, V I Titorenko, I J van der Klei, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spotsB T van Maldegem, H R Waterham, M Duran, et al.
The Journal of Biological Chemistry|July 21, 1995
The Hansenula polymorpha PER3 gene is essential for the import of PTS1 proteins into the peroxisomal matrixI J van der Klei, R E Hilbrands, G J Swaving, et al.
American Journal of Human Genetics|June 5, 2001
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levelsC Walter, J Gootjes, P A Mooijer, et al.
Rheumatology (Oxford, England)|May 24, 2001
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia DJ Frenkel, S M Houten, H R Waterham, et al.
Bioinformatics (Oxford, England)|August 12, 2008
Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathwaysA M Willemsen, G A Jansen, J C Komen, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
Nature Genetics|February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyS Ferdinandusse, S Denis, P T Clayton, et al.
Pageof 10

Showing results (71-80 of 97) with videos related to

Sort By:
Pageof 10
Journal of Inherited Metabolic Disease|January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfallR J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.
Human Genetics|September 10, 1999
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiencyF M Vaz, H R Scholte, J Ruiter, et al.
Current Genetics|August 1, 1995
Characterization of peroxisome-deficient mutants of Hansenula polymorphaX Tan, V I Titorenko, I J van der Klei, et al.
Journal of Inherited Metabolic Disease|May 20, 2005
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spotsB T van Maldegem, H R Waterham, M Duran, et al.
The Journal of Biological Chemistry|July 21, 1995
The Hansenula polymorpha PER3 gene is essential for the import of PTS1 proteins into the peroxisomal matrixI J van der Klei, R E Hilbrands, G J Swaving, et al.
American Journal of Human Genetics|June 5, 2001
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levelsC Walter, J Gootjes, P A Mooijer, et al.
Rheumatology (Oxford, England)|May 24, 2001
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia DJ Frenkel, S M Houten, H R Waterham, et al.
Bioinformatics (Oxford, England)|August 12, 2008
Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathwaysA M Willemsen, G A Jansen, J C Komen, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
Nature Genetics|February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyS Ferdinandusse, S Denis, P T Clayton, et al.
Pageof 10