- Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation2010 | First Faculty of Medicine
- Laboratory findings in two patients with neonatal-onset of type II citrullinemiaPublication without faculty affiliation
- Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins2018 | Second Faculty of Medicine
- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | First Faculty of Medicine
- Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy2020 | Central Library of Charles University
- Clinical symptoms and laboratory data in 75 children with neonatal manifestation of mitochondrial disease: Proposed diagnostics algorithms2010 | First Faculty of Medicine
- Autoinflammatory syndromes and periodic fevers2006 | Second Faculty of Medicine
- Autoinflammatory and monogenic vasculitis with possible manifestations in the neonatal age2017 | Second Faculty of Medicine
- Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders2014 | First Faculty of Medicine
- Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat2022 | First Faculty of Medicine, Faculty of Science
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation2015 | First 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 FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 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