Publications
- STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population2018 | Second Faculty of Medicine
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | Second Faculty of Medicine
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | Second Faculty of Medicine
- Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site2016 | Second Faculty of Medicine
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis2016 | Second Faculty of Medicine
- A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy2024 | Second Faculty of Medicine, Central Library of Charles University
- Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel2024 | Second Faculty of Medicine
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | Second Faculty of Medicine
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | Second Faculty of Medicine
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | Second Faculty of Medicine
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