Publications
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | First Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1 beta2022 | First Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease: A review2022 | First 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
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland2019 | First Faculty of Medicine
- Autosomal Dominant Tubulointerstitial Kidney Disease2017 | 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
- Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 12014 | 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
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