Publikace
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | 2. lékařská fakulta
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | 2. lékařská fakulta
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | 2. lékařská fakulta
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | 2. lékařská fakulta
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | 2. lékařská fakulta
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | 2. lékařská fakulta
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