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- Journal Article
- A1
- open access
Neonatal lactic acidosis explained by LARS2 defect
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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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- Miscellaneous
- open access
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival (Sept, 10.1038/s41388-021-02006-x, 2021)
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- Journal Article
- A1
- open access
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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- Journal Article
- A1
- open access
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
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- Journal Article
- A1
- open access
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients
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- Journal Article
- A2
- open access
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene
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New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ