Publikace
- Rare copy number variation in extremely impulsively violent males2019 | 1. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 42018 | 1. lékařská fakulta, 3. lékařská fakulta
- Large Copy-Number Variations in Patients With Statin-Associated Myopathy Affecting Statin Myopathy-Related Loci2016 | 1. lékařská fakulta, Ústřední knihovna
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | 1. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Molecular patterns of diffuse and nodular parathyroid hyperplasia in long-term hemodialysis2016 | 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. lékařsk á fakulta
- Validation of rs2956540:G > C and rs3735520:G > A association with keratoconus in a population of European descent2015 | 1. lékařská fakulta, 2. lékařská fakulta
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | 1. lékařská fakulta
- Bioinformatic perspectives in the neuronal ceroid lipofuscinoses2013 | 1. lékařská fakulta
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