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microdeletion syndrome
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Mgr. Jana Drábová Ph.D.
Academic staff at Second Faculty of Medicine
30 publications
Publications
publication
Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
2015 |
Second Faculty of Medicine
publication
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
2014 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
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 syndrome
2013 |
Second Faculty of Medicine
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
publication
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
2020 |
Second Faculty of Medicine
publication
Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly
2018 |
Second Faculty of Medicine, First Faculty of Medicine
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
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