Publikace
- Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration2020 | 1. lékařská fakulta, 2. lékařská fakulta
- Prot2HG: a database of protein domains mapped to the human genome2020 | 2. lékařská fakulta
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME2020 | 2. lékařská fakulta
- IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients2019 | 2. lékařská fakulta
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | 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
- Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy2017 | 2. lékařská fakulta
- Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease2014 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- High frequency of SH3TC2 mutations in Czech HMSN I patients2011 | 2. lékařská fakulta
Loading network view...