Publications
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | Second Faculty of Medicine
- Prot2HG: a database of protein domains mapped to the human genome2020 | Second Faculty of Medicine
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 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
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | Second Faculty of Medicine
- Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser2018 | Second Faculty of Medicine
- BRAT1 links Integrator and defective RNA processing with neurodegeneration2022 | Faculty of Science, Central Library of Charles University
- Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity2022 | Faculty of Science, Central Library of Charles University
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