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Rosanna Pöyhönen

University of Helsinki

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

2013 Journal of Medical Genetics
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Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

2012 Human Molecular Genetics
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