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- Journal Article
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Neonatal lactic acidosis explained by LARS2 defect
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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
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- Journal Article
- A1
- open access
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy