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- Journal Article
- A1
- open access
Neonatal lactic acidosis explained by LARS2 defect
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Mammalian target of rapamycin inhibition enhances delivery and activity of antisense oligonucleotides in uveal melanoma cells
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- Journal Article
- A2
- open access
Clinical, biochemical, and histopathological diagnosis of Egyptian paediatric patients with suspected mitochondrial diseases : a hospital-based study
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Miscellaneous
- open access
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)