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Redefining infantile-onset multisystem phenotypes of coenzyme Q<sub>10</sub>-deficiency in the next-generation sequencing era

Cryogenic electron paramagnetic resonance spectroscopy of flash-frozen tissue for characterization of mitochondrial disease

Role of transfer RNA modification and aminoacylation in the etiology of congenital intellectual disability

Mitochondrial translation defects and human disease

The North American mitochondrial disease registry

Spectrum of <i>MECP2</i> mutations in Indian females with Rett Syndrome - a large cohort study

Intellectual disability, the long way from genes to biological mechanisms

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Journal of Translational Genetics and Genomics
ISSN 2578-5281 (Online)
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