Publications
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | First Faculty of Medicine
- DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome2022 | First Faculty of Medicine
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder2020 | First Faculty of Medicine
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 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
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
- Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype2023 | First Faculty of Medicine
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | First Faculty of Medicine
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