- Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases2020 | 1. lékařská fakulta
- Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice2020 | 1. lékařská fakulta
- The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project2022 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease2018 | 1. lékařská fakulta
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1 beta2022 | 1. lékařská fakulta
- Identification of a novel UMOD mutation (c. 163G > A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease2018 | 1. lékařská fakulta
- Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele2013 | 1. lékařská fakulta
- Building a network of ADPKD reference centres across Europe: the EuroCYST initiative2014 | 1. lékařská fakulta
- Prevalence of Hypertension in Children with Early-Stage ADPKD2018 | 2. lékařská fakulta