- Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes2016 | First Faculty of Medicine
- Thrombin Generation Decrease After LMWH Administration in an Antithrombin-Deficient Pregnant Woman With a Homozygous HBS II Mutation2023 | First Faculty of Medicine
- The Homozygous Type II Antithrombin Deficient Pregnant Woman Monitored by Thrombin Generation Assay2023 | First Faculty of Medicine
- Congenital myasthenic sydromes2010 | First Faculty of Medicine
- Thromboembolism of the renal artery causing renal parenchymal infarction2014 | First Faculty of Medicine
- Gitelman syndrome: novel mutation and long-term follow-up2012 | First Faculty of Medicine
- Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation2012 | First Faculty of Medicine
- Congenital myasthenic syndrome2007 | Second Faculty of Medicine
- A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT2008 | Second Faculty of Medicine
- Acquired uniparental disomy in bone-marrow cells of patients with myelodysplastic syndrome and complex karyotype2015 | First Faculty of Medicine
- Thrombin Decrease in Thrombin Generation after Heparin Administration in a Homozygous Type II Heparin-Binding Site Antithrombin-Deficient Pregnant Woman2023 | First Faculty of Medicine
- Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia2013 | Faculty of Medicine in Hradec Králové
- The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma2003 | Second Faculty of Medicine
- DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population2012 | Second Faculty of Medicine
- Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency2020 | First Faculty of Medicine
- Therapy-Induced Growth and Sexual Maturation in a Developmentally Infantile Adult Patient with a PROP1 Mutation2017 | First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
- Refining the Role of Lgl, Dlg and Scrib in Tumor Suppression and Beyond: Learning from the Old Time Classics2012 | First Faculty of Medicine
- Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation2015 | First Faculty of Medicine
- Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia2012 | Faculty of Medicine in Pilsen
- Hypogonadotropic hypogonadism in a homozygous MC4R mutation carrier and the effect of sibutramine treatment on body weight and obesity-related health risks2011 | Third Faculty of Medicine
- Clinical relevance of Wilms tumor 1 gene mutations in childhood acute myeloid leukemia2009 | Second Faculty of Medicine
- From bruising a toe to diagnosing cystic fibrosis2016 | First Faculty of Medicine, Second Faculty of Medicine
- Analysis of KERA in four families with cornea plana identifies two novel mutations2018 | First Faculty of Medicine
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing2012 | First Faculty of Medicine
- Cryptic aberrations may allow more accurate prognostic classification of patients with myelodysplastic syndromes and clonal evolution2020 | First Faculty of Medicine
- Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene2013 | Second Faculty of Medicine
- Mutational Analysis of the NPHS2 Gene in Czech Patients with Idiopathic Nephrotic Syndrome2012 | First Faculty of Medicine, Faculty of Medicine in Hradec Králové
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)2006 | Second Faculty of Medicine