Publications
- A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature2018 | Second Faculty of Medicine
- Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype2018 | Second Faculty of Medicine
- Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres2018 | Second Faculty of Medicine
- Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects2018 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králové
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | Second Faculty of Medicine
- Monozygotic Twins with 17q21.31 Microdeletion Syndrome2014 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- 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 | Second Faculty of Medicine, 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
- Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes2013 | Second Faculty of Medicine
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