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D Chretien

Showing results (41-50 of 49) with videos related to

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The Journal of Pediatrics|August 1, 1992
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosisJ P Bonnefont, D Chretien, P Rustin, et al.
Lancet (London, England)|September 6, 2000
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiencyA Rötig, E L Appelkvist, V Geromel, et al.
American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.
American Journal of Human Genetics|July 31, 1998
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiencyJ C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.
Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
Mitochondrion|November 21, 2012
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disordersR J T Rodenburg, G C Schoonderwoerd, V Tiranti, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
The Journal of Pediatrics|August 1, 1992
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosisJ P Bonnefont, D Chretien, P Rustin, et al.
Lancet (London, England)|September 6, 2000
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiencyA Rötig, E L Appelkvist, V Geromel, et al.
American Journal of Human Genetics|May 12, 2001
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyP Bénit, D Chretien, N Kadhom, et al.
American Journal of Human Genetics|July 31, 1998
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiencyJ C von Kleist-Retzow, V Cormier-Daire, P de Lonlay, et al.
Molecular Genetics and Metabolism|November 3, 2005
Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvementA Slama, I Giurgea, D Debrey, et al.
Journal of Hepatology|September 1, 1995
Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiencyI Goncalves, D Hermans, D Chretien, et al.
Journal of Medical Genetics|December 20, 2003
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiencyS Lebon, M Chol, P Benit, et al.
Journal of Medical Genetics|March 8, 2003
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyM Chol, S Lebon, P Bénit, et al.
Mitochondrion|November 21, 2012
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disordersR J T Rodenburg, G C Schoonderwoerd, V Tiranti, et al.
Pageof 5