Publications
- A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis2022 | First Faculty of Medicine, Third Faculty of Medicine
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes2020 | First Faculty of Medicine
- Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model2017 | First Faculty of Medicine
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | First Faculty of Medicine
- Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver2012 | First Faculty of Medicine, Third Faculty of Medicine
- Expression and processing of the TMEM70 protein2011 | First Faculty of Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
- Preparation, validation and clinical application of an automated test procedure for the determination of Covid-19 in clinical materialPublication without faculty affiliation
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | First Faculty of Medicine, Second Faculty of Medicine
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