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- Journal Article
- A1
- open access
Clinical heterogeneity in MT-ATP6 pathogenic variants : same genotype—different onset
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- Journal Article
- A1
- open access
Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers
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Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene
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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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- Journal Article
- A1
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Clinical implementation of gene panel testing for lysosomal storage diseases
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Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration
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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans
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- Journal Article
- A1
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Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT
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Expanding the clinical spectrum of biallelic ZNF335 variants
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- Journal Article
- A1
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?