- De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy2016 | Second Faculty of Medicine
- De Novo Mutation and Rapid Protein (Co-)evolution during Meiotic Adaptation in Arabidopsis arenosa2021 | Faculty of Science
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies2014 | Second Faculty of Medicine
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy2014 | Second Faculty of Medicine
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
- De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study2006 | First Faculty of Medicine
- Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene2016 | Second Faculty of Medicine
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | First Faculty of Medicine
- Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene2004 | Faculty of Physical Education and Sport
- Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient2017 | Second Faculty of Medicine
- Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature2002 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | First Faculty of Medicine, Second Faculty of Medicine
- Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women2016 | Second Faculty of Medicine
- Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B22018 | Second Faculty of Medicine
- Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome2009 | Second Faculty of Medicine
- Antibiotics and Antibiotic Resistance- Flipsides of the Same Coin2022 | Publication without faculty affiliation
- Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains2017 | Second Faculty of Medicine
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals2019 | Second Faculty of Medicine
- Age at first birth in women is genetically associated with increased risk of schizophrenia2018 | Second Faculty of Medicine
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Central Library of Charles University
- New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma2006 | First Faculty of Medicine, Central Library of Charles University
- New multiple somatic mutations in the RET proto-oncogene associated with a sporadic medullary thyroid carcinoma2006 | First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Six New Gap Junction Beta 1 Gene Mutations and Their Phenotypic Expression in Czech Patients with Charcot-Marie-Tooth Disease2010 | Second Faculty of Medicine
- Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy2016 | Second Faculty of Medicine
- The phenotypic spectrum of SCN8A encephalopathy2015 | Second Faculty of Medicine
- STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy2016 | Second Faculty of Medicine
- FOXP1-related intellectual disability syndrome: a recognisable entity2017 | Second Faculty of Medicine
- Laboratory genetic examination in pediatrics2007 | Second Faculty of Medicine
- Neurobiology, Functions, and Relevance of Excitatory Amino Acid Transporters (EAATs) to Treatment of Refractory Epilepsy2020 | First Faculty of Medicine