Publikace
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | 2. lékařská fakulta
- Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene2016 | 2. lékařská fakulta
- Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients2016 | 2. lékařská fakulta
- Hereditární motorick é neuropatie2016 | 2. lékařská fakulta
- Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients2013 | 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
- Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies2023 | 2. lékařská fakulta
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