Publications
- 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
- 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
- A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications2014 | Second Faculty of Medicine
- Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis2007 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
- Case report of patients with a marker chromosome2004 | Second Faculty of Medicine
- CNVs in patients with epilepsy - Czech experiencePublication without faculty affiliation
- Intronic microduplications of RBFOX1 gene and their phenotypic consequencesPublication without faculty affiliation
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | Second Faculty of Medicine, First Faculty of Medicine
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