Classes
Publications
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency2012 | 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
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- Cytosine-Adenosine (CA)(n) repeats polymorphism in IGF-I gene and early growth in infants born appropriate and small for gestational age2009 | 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
- Hematopoietic stem cell transplantation in children with inborn errors of metabolism and malignant infantile osteopetrosis2022 | First Faculty of Medicine, Second Faculty of Medicine
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