Publikace
- Polygenic burden in focal and generalized epilepsies2019 | 2. lékařská fakulta
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | 2. lékařská fakulta
- Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene2012 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Mutations in the LMNA gene do not cause axonal CMT in Czech patients2009 | 2. lékařská fakulta
- Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene2009 | 2. lékařská fakulta
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | 2. lékařská fakulta, Ústřední knihovna
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta
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