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- Journal Article
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- open access
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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- Journal Article
- A1
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Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts
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- Journal Article
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A critical assessment of the therapeutic potential of resveratrol supplements for treating mitochondrial disorders
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ALG1-CDG: clinical and molecular characterization of 39 unreported patients
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy