Publications
- Mutation in TMEM76 are associated with acetyl coenzyme A: Alfa-glucosaminide A acetyltransferase deficiency in mucopolysaccharidosis type IIIc patientsPublication without faculty affiliation
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure2009 | First Faculty of Medicine
- HIF and reactive oxygen species regulate oxidative phosphorylation in cancer2008 | 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
- TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy2008 | First Faculty of Medicine
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump2007 | First Faculty of Medicine, Third Faculty of Medicine
- Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump2007 | Faculty of Physical Education and Sport
- Mutation in TMEM76 cause mucopolysacharidosis III C syndrome2006 | First Faculty of Medicine
- Mutation in TMEM76 cause mucopolysacharidosis III C syndrome2006 | Faculty of Physical Education and Sport
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