Publications
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish2019 | Second Faculty of Medicine
- Diagnostic implications of genetic copy number variation in epilepsy plus2019 | Second Faculty of Medicine
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy2019 | Second Faculty of Medicine
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | Second Faculty of Medicine
- De novo variants in neurodevelopmental disorders with epilepsy2018 | Second Faculty of Medicine
- STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy2016 | Second Faculty of Medicine
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy2016 | Second Faculty of Medicine
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- The phenotypic spectrum of SCN8A encephalopathy2015 | Second Faculty of Medicine
- Nonlinear analysis of the sleep EEG in children with pervasive developmental disorder2008 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
Loading network view...