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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
Neonatal lactic acidosis explained by LARS2 defect
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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
Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset
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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
The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival
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A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility
(2021) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of inherited metabolic disease 44(S1). p.139-140 -
- Journal Article
- A1
- open access
Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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Hoe ontstaan chronische klachten bij patiënten met fibromyalgie? De insula, een hersengebied met een mogelijke sleutelrol
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- Journal Article
- A2
- open access
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene