- Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance2021 | Faculty of Science
- DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling2015 | First Faculty of Medicine
- Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease2023 | Second Faculty of Medicine, First Faculty of Medicine
- Expression Profiling of Nme7 Interactome in Experimental Models of Metabolic Syndrome2018 | First Faculty of Medicine
- Molecular profiling of the vestibular lamina highlights a key role for Hedgehog signalling2023 | First Faculty of Medicine
- Cystic kidney disease in the newborn: a practical approach to diagnosis and follow-up care2023 | Faculty of Medicine in Hradec Králové
- Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease2017 | Second Faculty of Medicine
- Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 | Second Faculty of Medicine
- Genetic etiology of kidney disease - overview and case studies in accordance with massive parallel sequencing2021 | Second Faculty of Medicine
- DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects2015 | Second Faculty of Medicine
- Loss of Sprouty Produces a Ciliopathic Skeletal Phenotype in Mice Through Upregulation of Hedgehog Signaling2021 | First Faculty of Medicine, Faculty of Science
- Bardet-Biedl Syndrome2012 | Publication without faculty affiliation
- Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report2021 | Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes2022 | Central Library of Charles University
- Pathway-specific effects of ADSL deficiency on neurodevelopment2022 | First 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
- Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia2013 | Publication without faculty affiliation
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease2023 | Second Faculty of Medicine, First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine