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duplicity
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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
Choledochal Cyst with 17q12 Chromosomal Duplication
2018 |
Second Faculty of Medicine
publication
Cardiogenetics through cytogenetic eyes - submicroscopic aberration in patients with congenital heart defects
2018 |
Second Faculty of Medicine
publication
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring
2016 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Hradec Králov é
publication
Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype
2015 |
Second Faculty of Medicine
publication
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications
2014 |
Second Faculty of Medicine
publication
CNVs in patients with epilepsy - Czech experience
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
publication
Concordance of DNA copy number profiles between primary and metastatic colorectal carcinoma
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Medicine in Pilsen
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