- Microdeletion Syndromes2006 | Second Faculty of Medicine
- Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome2022 | Second Faculty of Medicine
- Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive2012 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- Microdeletion Syndromes2006 | Publication without faculty affiliation
- Microdeletion Syndromes2006 | First Faculty of Medicine, Faculty of Physical Education and Sport
- A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome2013 | Second 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, Second Faculty of Medicine, Faculty of Physical Education and Sport
- BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations2015 | Second Faculty of Medicine
- Williams-Beuren syndrome2000 | First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature2018 | Second Faculty of Medicine
- Sleep in neurological and neurodevelopmental disorders2017 | First Faculty of Medicine
- Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method1999 | Second Faculty of Medicine
- Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population2011 | First Faculty of Medicine
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population2011 | Faculty of Science, First Faculty of Medicine
- Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q2008 | Second Faculty of Medicine
- Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature2017 | Second Faculty of Medicine