Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

R J Wanders

Showing results (491-500 of 497) with videos related to

Pageof 50
Sort By:
You have reached the last page of results.This site can display upto 497 results.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 15, 1987
X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA estersR J Wanders, C W van Roermund, M J van Wijland, et al.
Genomics|August 31, 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsT Fukao, G A Mitchell, X Q Song, et al.
Human Mutation|July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disordersZ Zhang, Y Suzuki, N Shimozawa, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.
Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.
Nature Genetics|June 16, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, W Kuis, M Duran, et al.
Archives of Biochemistry and Biophysics|January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patientsC H Casale, N Casals, J Pié, et al.
Pageof 50

Showing results (491-500 of 497) with videos related to

Sort By:
Pageof 50
You have reached the last page of results.This site can display upto 497 results.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 15, 1987
X-linked adrenoleukodystrophy: defective peroxisomal oxidation of very long chain fatty acids but not of very long chain fatty acyl-CoA estersR J Wanders, C W van Roermund, M J van Wijland, et al.
Genomics|August 31, 2000
Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutationsT Fukao, G A Mitchell, X Q Song, et al.
Human Mutation|July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disordersZ Zhang, Y Suzuki, N Shimozawa, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.
Neurology|September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathyS B Wortmann, B H Kremer, A Graham, et al.
Nature Genetics|June 16, 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, W Kuis, M Duran, et al.
Archives of Biochemistry and Biophysics|January 24, 1998
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patientsC H Casale, N Casals, J Pié, et al.
Pageof 50