Publications
- NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease2020 | First Faculty of Medicine, Faculty of Medicine in Pilsen, Third Faculty of Medicine
- Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing2020 | First Faculty of Medicine
- Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion2018 | First Faculty of Medicine
- Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature2017 | First Faculty of Medicine, Second Faculty of Medicine
- Rare variants in known and novel candidate genes predisposing to statin-associated myopathy2016 | First Faculty of Medicine, Central Library of Charles University
- Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci2016 | First Faculty of Medicine, Central Library of Charles University
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | First Faculty of Medicine
- 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 | First Faculty of Medicine
- Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer2015 | First Faculty of Medicine
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
Loading network view...