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Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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- Journal Article
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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- Journal Article
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Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
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- Journal Article
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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency
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Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy