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- Journal Article
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- 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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Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
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- Journal Article
- A1
- open access
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?
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- Journal Article
- A1
- open access
Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype
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- Journal Article
- A1
- open access
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
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- Journal Article
- A1
- open access
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
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- Journal Article
- A1
- open access
Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease