Publikace
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | 1. lékařská fakulta
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations2020 | 1. lékařská fakulta
- Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report2018 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF62016 | 1. lékařská fakulta
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome2006 | 1. lékařská fakulta
- Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q412005 | 1. lékařská fakulta
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | 1. lékařská fakulta
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