- HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma2016 | Faculty of Medicine in Hradec Králové
- Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint2013 | First Faculty of Medicine
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | Second Faculty of Medicine
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | Second Faculty of Medicine
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | Second Faculty of Medicine
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome2013 | Second Faculty of Medicine
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | Second Faculty of Medicine
- Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation2018 | First Faculty of Medicine, Second Faculty of Medicine
- Macrovascular involvement in a child with atypical hemolytic uremic syndrome2014 | Second Faculty of Medicine
- Gastrointestinal Stromal Tumors (GIST): A Single Center Experience2012 | Third Faculty of Medicine
- Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia2013 | Second Faculty of Medicine
- Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism2007 | Second Faculty of Medicine
- Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH12012 | Second Faculty of Medicine
- Polymorphisms in the Innate Immune IFIH1 Gene, Frequency of Enterovirus in Monthly Fecal Samples during Infancy, and Islet Autoimmunity2011 | Second Faculty of Medicine
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia2017 | Second Faculty of Medicine
- Pacak-Zhuang Syndrome: A New Kid on The Block2014 | Second Faculty of Medicine
- Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension2013 | Faculty of Medicine in Hradec Králové
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A22008 | Second Faculty of Medicine
- Gitelman Syndrome as a Cause of Psychomotor Retardation in a Toddler2013 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome2014 | Second Faculty of Medicine
- Acute kidney injury in two children caused by renal hypouricaemia type 22012 | First Faculty of Medicine
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | First Faculty of Medicine, Faculty of Science, Third Faculty of Medicine
- Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia2011 | First Faculty of Medicine
- CRAC channel opening is determined by a series of Orai1 gating checkpoints in the transmembrane and cytosolic regions2021 | Faculty of Mathematics and Physics
- Mendelian Susceptibility to Mycobacterial Diseases2016 | First Faculty of Medicine, Second Faculty of Medicine
- A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report2020 | First Faculty of Medicine
- Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia2013 | Faculty of Medicine in Hradec Králové
- Lurcher Mouse2013 | Faculty of Medicine in Pilsen
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | First Faculty of Medicine
- Reduced Gamma Oscillations in a Mouse Model of Intellectual Disability: A Role for Impaired Repetitive Neurotransmission?2014 | Second Faculty of Medicine