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

C Jakobs

Showing results (401-410 of 417) with videos related to

Pageof 42
Sort By:
Arteriosclerosis, Thrombosis, and Vascular Biology|February 5, 2005
S-adenosylmethionine and 5-methyltetrahydrofolate are associated with endothelial function after controlling for confounding by homocysteine: the Hoorn StudyA M W Spijkerman, Y M Smulders, P J Kostense, et al.
Neurology|August 12, 2009
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiencyP L Pearl, K M Gibson, Z Quezado, et al.
Neurology|July 2, 2008
Reduced brain choline in homocystinuria due to remethylation defectsF-G Debray, Y Boulanger, A Khiat, et al.
Clinical Genetics|June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ M van de Kamp, G M S Mancini, P J W Pouwels, et al.
The Journal of Cell Biology|December 26, 2007
Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucomaGareth R Howell, Richard T Libby, Tatjana C Jakobs, et al.
Pediatric Research|June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolismK M Gibson, T G Burlingame, B Hogema, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduriaM Kranendijk, G S Salomons, K M Gibson, et al.
Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.
Annals of Neurology|January 23, 1999
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?M S van der Knaap, C Jakobs, G F Hoffmann, et al.
Pageof 42

Showing results (401-410 of 417) with videos related to

Sort By:
Pageof 42
Arteriosclerosis, Thrombosis, and Vascular Biology|February 5, 2005
S-adenosylmethionine and 5-methyltetrahydrofolate are associated with endothelial function after controlling for confounding by homocysteine: the Hoorn StudyA M W Spijkerman, Y M Smulders, P J Kostense, et al.
Neurology|August 12, 2009
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiencyP L Pearl, K M Gibson, Z Quezado, et al.
Neurology|July 2, 2008
Reduced brain choline in homocystinuria due to remethylation defectsF-G Debray, Y Boulanger, A Khiat, et al.
Clinical Genetics|June 10, 2010
Clinical features and X-inactivation in females heterozygous for creatine transporter defectJ M van de Kamp, G M S Mancini, P J W Pouwels, et al.
The Journal of Cell Biology|December 26, 2007
Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucomaGareth R Howell, Richard T Libby, Tatjana C Jakobs, et al.
Pediatric Research|June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolismK M Gibson, T G Burlingame, B Hogema, et al.
Molecular Genetics and Metabolism|June 28, 2005
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7M L Cardoso, A Balreira, E Martins, et al.
Journal of Inherited Metabolic Disease|October 13, 2009
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduriaM Kranendijk, G S Salomons, K M Gibson, et al.
Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.
Annals of Neurology|January 23, 1999
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?M S van der Knaap, C Jakobs, G F Hoffmann, et al.
Pageof 42