Publikace
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin2022 | 1. lékařská fakulta
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | 1. lékařská fakulta
- An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes2020 | 1. lékařská fakulta
- Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion2018 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)2016 | 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
- Adipose tissue-specific ablation of PGC-1β impairs thermogenesis in brown fat2022 | 1. lékařská fakulta, Ústřední knihovna, Přírodovědecká fakulta
- Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?2021 | 1. lékařská fakulta
- NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease2020 | 1. lékařská fakulta, Lékařská fakulta v Plzni, 3. lékařská fakulta
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