Publications
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
- A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation2023 | Second Faculty of Medicine
- Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members2020 | Second Faculty of Medicine
- Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly2018 | Second Faculty of Medicine, First Faculty of Medicine
- 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
- Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects2018 | Second Faculty of Medicine
- Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene - Case Report2016 | Second Faculty of Medicine
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications2014 | Second Faculty of Medicine
- 45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology2013 | Second Faculty of Medicine
- Array comparative genome hybridization in patients with developmental delay: two example cases2012 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
Loading network view...