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New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders
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Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3
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- Journal Article
- A1
- open access
New insights into the phenotype of FARS2 deficiency
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New observation of sialuria prompts detection of liver tumor in previously reported patient
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New observation of sialuria prompts detection of liver tumor in previously reported patient
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Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: report on nine patients
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Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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- Journal Article
- A1
- open access
Quantitation of gamma-hydroxybutyric acid in dried blood spots in newborn screening
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Single nucleotide polymorphisms in sFRP4 are associated with bone and body composition related parameters in Danish but not in Belgian men