Publikace
- Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD2023 | 1. lékařská fakulta
- Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations2021 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations2020 | 1. lékařská fakulta
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes2020 | 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
- Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness2015 | 1. lékařská fakulta
- Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome2006 | 1. lékařská fakulta
- Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system2003 | 1. lékařská fakulta
- Transient expression of wild-type and mutant glucocerebrosidases in hybrid vaccinia expression system2003 | Fakulta tělesné výchovy a sportu
- Analysis of the (-Glucocerebrosidase Gene in Czech and slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles.1999 | Fakulta tělesné výchovy a sportu
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