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
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | 2. lékařská fakulta
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 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
- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies2014 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- 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
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | 2. lékařská fakulta
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