Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- 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
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | First Faculty of Medicine, Second Faculty of Medicine
- Neonatal case reports2020 | Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- 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
- 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
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | Second Faculty of Medicine
- Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations2019 | Second Faculty of Medicine
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