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H R Waterham

Showing results (81-90 of 97) with videos related to

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Endocrinology|April 18, 2012
The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy)H I El Hajj, A Vluggens, P Andreoletti, et al.
Genetics|April 2, 1999
Positive selection of novel peroxisome biogenesis-defective mutants of the yeast Pichia pastorisM A Johnson, H R Waterham, G P Ksheminska, et al.
Annals of Human Genetics|June 28, 2001
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndromeP E Jira, R J Wanders, J A Smeitink, et al.
American Journal of Human Genetics|May 7, 2002
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional proteinS Ferdinandusse, E G van Grunsven, W Oostheim, et al.
Human Molecular Genetics|July 13, 1999
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesisS M Houten, G J Romeijn, J Koster, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
Clinical and Experimental Immunology|November 28, 2002
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanerceptP D Arkwright, M F McDermott, S M Houten, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal diseaseN A Oey, M E J den Boer, J P N Ruiter, et al.
Neuropediatrics|April 19, 2011
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhoodB T van Maldegem, S F Kloosterman, W J Janssen, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromeB T Poll-The, J Frenkel, S M Houten, et al.
Pageof 10

Showing results (81-90 of 97) with videos related to

Sort By:
Pageof 10
Endocrinology|April 18, 2012
The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy)H I El Hajj, A Vluggens, P Andreoletti, et al.
Genetics|April 2, 1999
Positive selection of novel peroxisome biogenesis-defective mutants of the yeast Pichia pastorisM A Johnson, H R Waterham, G P Ksheminska, et al.
Annals of Human Genetics|June 28, 2001
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndromeP E Jira, R J Wanders, J A Smeitink, et al.
American Journal of Human Genetics|May 7, 2002
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional proteinS Ferdinandusse, E G van Grunsven, W Oostheim, et al.
Human Molecular Genetics|July 13, 1999
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesisS M Houten, G J Romeijn, J Koster, et al.
American Journal of Human Genetics|July 31, 1998
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase geneH R Waterham, F A Wijburg, R C Hennekam, et al.
Clinical and Experimental Immunology|November 28, 2002
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanerceptP D Arkwright, M F McDermott, S M Houten, et al.
Journal of Inherited Metabolic Disease|September 16, 2003
High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal diseaseN A Oey, M E J den Boer, J P N Ruiter, et al.
Neuropediatrics|April 19, 2011
High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands, but no association with epilepsy of unknown origin in childhoodB T van Maldegem, S F Kloosterman, W J Janssen, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndromeB T Poll-The, J Frenkel, S M Houten, et al.
Pageof 10