Publications
- Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review2021 | First Faculty of Medicine, Second Faculty of Medicine
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine
- Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations2019 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 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
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 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
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | Second Faculty of Medicine
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