- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children - frequent and underestimated cause of disability among Czech gypsies2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant2020 | First Faculty of Medicine, Second Faculty of Medicine
- Autosomal recessive ethnical diseases of Czech Roma2006 | Second Faculty of Medicine
- Subtypes of autism by cluster analysis based on structural MRI data2005 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Late-presenting congenital diaphragmatic hernia in a child with TMEM70 deficiency2017 | First Faculty of Medicine
- Patient with Williams-Beuren syndrome in paediatrician's office2022 | Third Faculty of Medicine, Faculty of Medicine in Pilsen
- Cutis laxa and excessive bone growth due to de novo mutations in PTDSS12018 | Second Faculty of Medicine
- A restricted spectrum of NRAS mutations causes Noonan syndrome2010 | Second Faculty of Medicine
- Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome2004 | Third Faculty of Medicine
- A rare cause of intrauterine and postnatal growth restriction in a full-term infant2019 | Faculty of Medicine in Pilsen
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | Second Faculty of Medicine
- Development of a mnemonic screening tool for identifying subjects with Hunter syndrome2013 | First Faculty of Medicine
- Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p152013 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Male patient with ALG13 associated congenital disorder of glycosylation2021 | Second Faculty of Medicine
- Coarctation of the Aorta in Noonan-Like Syndrome With Loose Anagen Hair2014 | Second Faculty of Medicine
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres2018 | Second Faculty of Medicine
- ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings2021 | First Faculty of Medicine
- A novel heterozygous RIT1 mutation in a patient with Noonan syndrome, leukopenia, and transient myeloproliferation-a review of the literature2016 | First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
- De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy2016 | Second Faculty of Medicine
- Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report2020 | First Faculty of Medicine
- TMEM70 deficiency: long-term outcome of 48 patients2015 | First Faculty of Medicine
- Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report2017 | First Faculty of Medicine, Second Faculty of Medicine
- De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay2018 | First Faculty of Medicine, Second Faculty of Medicine
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | Second Faculty of Medicine
- Disorders of Sulfur Amino Acid Metabolism2022 | First Faculty of Medicine
