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C Jakobs

Showing results (411-420 of 417) with videos related to

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Journal of Inherited Metabolic Disease|December 23, 2006
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiencyG S Salomons, C Jakobs, L Landegge Pope, et al.
Pediatrics|April 1, 1997
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patientsK M Gibson, E Christensen, C Jakobs, et al.
Neurology|July 21, 2006
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisS Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, et al.
Human Genetics|March 10, 1999
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyA B Van Kuilenburg, P Vreken, N G Abeling, et al.
Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
Cell|January 13, 2023
Loss of epigenetic information as a cause of mammalian agingJae-Hyun Yang, Motoshi Hayano, Patrick T Griffin, et al.
Cell|March 1, 2024
Loss of epigenetic information as a cause of mammalian agingJae-Hyun Yang, Motoshi Hayano, Patrick T Griffin, et al.
Pageof 42

Showing results (411-420 of 417) with videos related to

Sort By:
Pageof 42
You have reached the last page of results.This site can display upto 417 results.
Journal of Inherited Metabolic Disease|December 23, 2006
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiencyG S Salomons, C Jakobs, L Landegge Pope, et al.
Pediatrics|April 1, 1997
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patientsK M Gibson, E Christensen, C Jakobs, et al.
Neurology|July 21, 2006
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesisS Mercimek-Mahmutoglu, S Stoeckler-Ipsiroglu, A Adami, et al.
Human Genetics|March 10, 1999
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyA B Van Kuilenburg, P Vreken, N G Abeling, et al.
Journal of Medical Genetics|May 7, 2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiencyJ M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, et al.
Cell|January 13, 2023
Loss of epigenetic information as a cause of mammalian agingJae-Hyun Yang, Motoshi Hayano, Patrick T Griffin, et al.
Cell|March 1, 2024
Loss of epigenetic information as a cause of mammalian agingJae-Hyun Yang, Motoshi Hayano, Patrick T Griffin, et al.
Pageof 42