Publikace
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | 2. lékařská fakulta
- Diagnostic implications of genetic copy number variation in epilepsy plus2019 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 2. lékařská fakulta
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | 2. lékařská fakulta
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy2016 | 2. lékařská fakulta
- Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline2016 | 2. lékařská fakulta
- The phenotypic spectrum of SCN8A encephalopathy2015 | 2. lékařská fakulta
- 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
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | 2. lékařská fakulta
Loading network view...
