2020年2期
Journal of Translational Genetics and Genomics
Review
- Redefining infantile-onset multisystem phenotypes of coenzyme Q10-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