Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients2021 | Second Faculty of Medicine
- Prot2HG: a database of protein domains mapped to the human genome2020 | Second Faculty of Medicine
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME2020 | Second Faculty of Medicine
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | Second Faculty of Medicine
- Polygenic burden in focal and generalized epilepsies2019 | Second Faculty of Medicine
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | Second Faculty of Medicine
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | Second Faculty of Medicine
- Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient2017 | Second Faculty of Medicine
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