- Genetic Disorders Resulting in Hyper- or Hypouricemia2012 | First Faculty of Medicine
- Schizophrenia as a genetic disorder of synaptic connection2008 | Publication without faculty affiliation
- Genetic disorders and sleepiness: medical, psychiatric and neurological causes of sleepiness2011 | First Faculty of Medicine
- Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis2022 | First Faculty of Medicine, Faculty of Science
- Trisomy X syndrome with dystonia and a pathogenic SATB1 variant2021 | First Faculty of Medicine
- Varied psychiatric and neurologic manifestations of acute hepatic porphyrias, metabolic genetic disorders of heme bisynthesisPublication without faculty affiliation
- Minor anomalies are clues toward the recognition of genetic syndromes2008 | Second Faculty of Medicine
- Syndromes that predispose to epistaxis2019 | Third Faculty of Medicine
- Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 22023 | First Faculty of Medicine
- The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN2022 | Second Faculty of Medicine
- Sex-specific disease modifiers in juvenile myoclonic epilepsy2022 | Second Faculty of Medicine
- Explanation of pathogenesis of skeleton deformities at genetic skeletal disorders through functional adaptation of bones2020 | Second Faculty of Medicine
- Cardiac manifestations in Fabry´s Disease (2)2001 | First Faculty of Medicine
- Cystic fibrosis: the model rare disease for pharmacoeconomical analyses2014 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Hereditary Renal Hypouricemia: A New Role for Allopurinol?2014 | First Faculty of Medicine
- Multiple endocrine neoplasia2010 | Second Faculty of Medicine
- Familial hypercholesterolemia - past and present. My experiences and findings in our group of patients with familial hypercholesterolemia2014 | First Faculty of Medicine
- Commentary: Preimplantation Genetic Diagnosis2009 | First Faculty of Medicine
- Study of urinary proteomes in Anderson-Fabry disease2010 | First Faculty of Medicine
- Problems in Early Establishment of the Diagnosis of Severe Combined Immunodeficiency +12007 | Faculty of Medicine in Hradec Králové
- Problems in Early Establishment of the Diagnosis of Severe Combined Immunodeficiency2007 | First Faculty of Medicine
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | Second Faculty of Medicine
- Augmentation therapy of COPD caused by α1-antiptrypsin deficiency2016 | First Faculty of Medicine
- Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 72024 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder1985 | Second Faculty of Medicine
- Loss-of-function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling2023 | Second Faculty of Medicine
- Syndromes of chromosomal instability2014 | Second Faculty of Medicine
- Antioxidant enzymes and the carcinoma of pancreas2011 | First Faculty of Medicine
- Atenatal diagnosis of bovel obstruction in a fetus2003 | First Faculty of Medicine