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J A M Smeitink

Showing results (1-10 of 31) with videos related to

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Journal of Inherited Metabolic Disease|August 2, 2003
Mitochondrial disorders: clinical presentation and diagnostic dilemmasJ A M Smeitink
Nederlands Tijdschrift Voor Geneeskunde|November 18, 2008
[Mitochondrial diseases; thinking beyond organ specialism necessary]B W Smits, J A M Smeitink, B G M van Engelen
Annals of Clinical Biochemistry|January 25, 2003
Some practical aspects of providing a diagnostic service for respiratory chain defectsA J M Janssen, J A M Smeitink, L P van den Heuvel
Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisitedS B Wortmann, R Rodenburg, B Schwahn, et al.
Journal of Inherited Metabolic Disease|October 19, 2013
Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficienciesP Smits, R J Rodenburg, J A M Smeitink, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 16, 2007
[Risk of acute hepatic insufficiency in children due to chronic accidental overdose of paracetamol (acetaminophen)]P Hameleers-Snijders, M Hogeveen, J A M Smeitink, et al.
Mitochondrion|August 27, 2005
The human complex I NDUFS4 subunit: from gene structure to function and pathologyS M S Budde, L P W J van den Heuvel, J A M Smeitink
Journal of Medical Genetics|June 2, 2006
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiencyR Hinttala, R Smeets, J S Moilanen, et al.
Acta Paediatrica (Oslo, Norway : 1992)|April 5, 2007
Early cardiac involvement in children carrying the A3243G mtDNA mutationS B Wortmann, R J Rodenburg, A P Backx, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhoodA B C Roeleveld-Versteegh, K P J Braun, J A M Smeitink, et al.
Pageof 4

Showing results (1-10 of 31) with videos related to

Sort By:
Pageof 4
Journal of Inherited Metabolic Disease|August 2, 2003
Mitochondrial disorders: clinical presentation and diagnostic dilemmasJ A M Smeitink
Nederlands Tijdschrift Voor Geneeskunde|November 18, 2008
[Mitochondrial diseases; thinking beyond organ specialism necessary]B W Smits, J A M Smeitink, B G M van Engelen
Annals of Clinical Biochemistry|January 25, 2003
Some practical aspects of providing a diagnostic service for respiratory chain defectsA J M Janssen, J A M Smeitink, L P van den Heuvel
Genetic Counseling (Geneva, Switzerland)|May 23, 2007
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisitedS B Wortmann, R Rodenburg, B Schwahn, et al.
Journal of Inherited Metabolic Disease|October 19, 2013
Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficienciesP Smits, R J Rodenburg, J A M Smeitink, et al.
Nederlands Tijdschrift Voor Geneeskunde|May 16, 2007
[Risk of acute hepatic insufficiency in children due to chronic accidental overdose of paracetamol (acetaminophen)]P Hameleers-Snijders, M Hogeveen, J A M Smeitink, et al.
Mitochondrion|August 27, 2005
The human complex I NDUFS4 subunit: from gene structure to function and pathologyS M S Budde, L P W J van den Heuvel, J A M Smeitink
Journal of Medical Genetics|June 2, 2006
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiencyR Hinttala, R Smeets, J S Moilanen, et al.
Acta Paediatrica (Oslo, Norway : 1992)|April 5, 2007
Early cardiac involvement in children carrying the A3243G mtDNA mutationS B Wortmann, R J Rodenburg, A P Backx, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
Mitochondrial respiratory chain disease presenting as progressive bulbar paralysis of childhoodA B C Roeleveld-Versteegh, K P J Braun, J A M Smeitink, et al.
Pageof 4