Publikace
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome2017 | 2. lékařská fakulta
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures2015 | 2. lékařská fakulta
- Synchronization as adjustment of information rates: Detection from bivariate time series2001 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | 2. lékařská fakulta
- Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic2023 | 2. lékařská fakulta
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | 2. lékařská fakulta
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy2023 | 2. lékařská fakulta
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