Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | First Faculty of Medicine, Second Faculty of Medicine
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects2020 | Second Faculty of Medicine
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment2019 | 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
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
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