Journal of Translational Genetics and Genomics
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Journal of Translational Genetics and Genomics
2020年2期
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目录
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
Original Article
The North American mitochondrial disease registry
Spectrum of MECP2 mutations in Indian females with Rett Syndrome - a large cohort study
Opinion
Intellectual disability, the long way from genes to biological mechanisms