Publications
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1 beta2022 | First Faculty of Medicine
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | First Faculty of Medicine
- Finding the genetic causes of chronic kidney disease2021 | First Faculty of Medicine
- Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases2020 | First Faculty of Medicine
- Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease2020 | First Faculty of Medicine
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations2020 | First Faculty of Medicine
- Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland2019 | First Faculty of Medicine
- Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation2018 | First Faculty of Medicine
- Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females2018 | First Faculty of Medicine
- Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report2018 | First Faculty of Medicine
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