- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | First Faculty of Medicine
- A new role for dolichol isoform profile in the diagnostics of CDG disorders2020 | First Faculty of Medicine
- De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus2022 | First Faculty of Medicine