Publications
- Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications2022 | Second Faculty of Medicine
- Prot2HG: a database of protein domains mapped to the human genome2020 | Second Faculty of Medicine
- Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations2019 | Second Faculty of Medicine
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | Second Faculty of Medicine
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 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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