Classes
Publications
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation2012 | First Faculty of Medicine
- Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure2012 | First Faculty of Medicine
- Mucopolysacharidosis2011 | First Faculty of Medicine
- Expression and processing of the TMEM70 protein2011 | First Faculty of Medicine
- Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFo ATP synthase deficiency2008 | First Faculty of Medicine
- Hepatocellular carcinoma in an infant with tyrosinemia type 12023 | First Faculty of Medicine, Second Faculty of Medicine
- Inherited disorders of carbohydrate metabolism2023 | First Faculty of Medicine
- Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes2023 | First Faculty of Medicine
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | First Faculty of Medicine
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