Publications
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | Second Faculty of Medicine
- 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
- 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
- Genetic Testing for Malformations of Cortical Development2022 | Second Faculty of Medicine
- GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?2021 | 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
- The cause of hereditary hearing loss in GJB2 heterozygotes-a comprehensive study of the GJB2/DFNB1 region2021 | Second Faculty of Medicine
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | Second Faculty of Medicine
- Prot2HG: a database of protein domains mapped to the human genome2020 | Second Faculty of Medicine
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