- Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder1985 | Second Faculty of Medicine
- Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia2015 | Second Faculty of Medicine
- Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline2016 | Second Faculty of Medicine
- Cystic Fibrosis1999 | Second Faculty of Medicine
- Brittle cornea syndrome : Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years2020 | First Faculty of Medicine
- Pompe disease2018 | First Faculty of Medicine
- Hypophosphatasia due to uniparental disomy2015 | Second Faculty of Medicine
- Michal who has eat yolk spread2006 | Faculty of Medicine in Hradec Králové
- Michal who has eat yolk spread2006 | First Faculty of Medicine
- Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic2014 | First Faculty of Medicine, Second Faculty of Medicine
- Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review2018 | First Faculty of Medicine
- Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish2019 | Second Faculty of Medicine
- HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 82017 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia2011 | Third Faculty of Medicine, Central Library of Charles University
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | First Faculty of Medicine
- Cystic fibrosis related diabetes: epidemiology, pathophysiology, diagnosis and treatment2015 | Second Faculty of Medicine
- Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q131999 | Second Faculty of Medicine
- Cystic fibrosis-related diabetes2023 | Second Faculty of Medicine
- Novel Mutations in the TAZ Gene in Patients with Barth Syndrome2013 | First Faculty of Medicine
- Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED2001 | Third Faculty of Medicine
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | Second Faculty of Medicine
- Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report2016 | Second Faculty of Medicine
- First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G2017 | Faculty of Medicine in Pilsen
- Pampe disease as seen by a pediatric cardiologist2012 | Second Faculty of Medicine
- Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition2002 | Central Library of Charles University
- Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients2011 | First Faculty of Medicine, Second Faculty of Medicine
- Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome2004 | Third Faculty of Medicine
- Different Manifestations of the Fragile X Chromosome Syndrome and Their Causes2007 | Second Faculty of Medicine
- Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic2017 | First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
- Cystic fibrosis newborn screening and CFSPID diagnostics2019 | Second Faculty of Medicine