Publications
- Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases2020 | First Faculty of Medicine
- Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC12020 | First Faculty of Medicine
- Quality of life in patients with autosomal dominant tubulointerstitial kidney disease2019 | First Faculty of Medicine
- Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease2023 | First Faculty of Medicine
- Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family2023 | First Faculty of Medicine
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
- Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis2023 | First Faculty of Medicine
- MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice2023 | First Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease: A review2022 | First Faculty of Medicine
- An intermediate-effect size variant in UMOD confers risk for chronic kidney disease2022 | First Faculty of Medicine
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