Publications
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | First Faculty of Medicine
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | First Faculty of Medicine
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | First Faculty of Medicine
- Diamond Seeding and Growth of Hierarchically Structured Films for Tissue Engineering2009 | First Faculty of Medicine
- Nanoscale topography of nanocrystalline diamonds promotes differentiation of osteoblasts2009 | First Faculty of Medicine
- Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells2024 | First Faculty of Medicine, Second Faculty of Medicine
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
- AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?2022 | First Faculty of Medicine, Third Faculty of Medicine
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | First Faculty of Medicine
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