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defects
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Mgr. Jana Drábová Ph.D.
Academic staff at Second Faculty of Medicine
30 publications
Publications
publication
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 literature
2018 |
Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype
2015 |
Second Faculty of Medicine
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Two supernumerary marker-chromosomes in a healthy woman: a case report
Publication without faculty affiliation
publication
Two supernumerary marker-chromosomes in a healthy woman - a case report
Publication without faculty affiliation
publication
An inherited 2q13 deletion in a patient with Marfan syndrome
Publication without faculty affiliation
publication
Complex cytogenetic and molecular genetic diagnostics of congenital heart defects
Publication without faculty affiliation
publication
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy
2024 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Discovery of Long Non-Coding RNA MALAT1 Amplification in Precancerous Colorectal Lesions
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen, Third Faculty of Medicine
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