Publikace
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Polygenic burden in focal and generalized epilepsies2019 | 2. lékařská fakulta
- Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life2018 | 2. lékařská fakulta
- Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 22018 | 2. lékařská fakulta
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | 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
Loading network view...