Publikace
- UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood2019 | 2. lékařská fakulta
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | 2. lékařská fakulta
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | 2. lékařská fakulta
- HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign genera lized epilepsy and beyond2018 | 2. lékařská fakulta
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | 2. lékařská fakulta, 1. lékařská fakulta
- Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects2017 | 2. lékařská fakulta
- Structural alterations of the language connectome in children with specific language impairment2015 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | 2. lékařská fakulta
- The phenotypic spectrum of SCN8A encephalopathy2015 | 2. lékařská fakulta
- Abnormální události v noci u dětí2015 | 2. lékařská fakulta
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