Publikace
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | 2. lékařská fakulta, Ústřední knihovna
- Genetic Testing for Malformations of Cortical Development2022 | 2. lékařská fakulta
- Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant2021 | 2. lékařská fakulta
- Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases2020 | 2. lékařská fakulta
- Prot2HG: a database of protein domains mapped to the human genome2020 | 2. lékařská fakulta
- Schinzel-Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis2019 | 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
- Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients2017 | 2. lékařská fakulta
- BRAT1 links Integrator and defective RNA processing with neurodegeneration2022 | Přírodovědecká fakulta, Ústřední knihovna
- Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity2022 | Přírodovědecká fakulta, Ústřední knihovna
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