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Paulien Smits

Radboud University Nijmegen Medical Centre

4

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Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects

2010 European Journal of Human Genetics
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Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies

2010 Journal of Inherited Metabolic Disease
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Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

2010 BioMed Research International
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Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

2006 American Journal of Human Genetics
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Citations (156)