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Aneuploidy of chromosomes 13, 18, 21, X, Y
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RNDr. Drahuše Novotná
External academic staff at Second Faculty of Medicine
50 publications
Publications
publication
Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide
2003 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Medical genetics in reproductive medicine
2002 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Rapid prenatal diagnosis of the most frequent chromosome-induced congenital defects by quantitative fluorescent PCR
1998 |
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
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
Second Faculty of Medicine
publication
Both 17q12 duplication and deletion detected in the patient with normal phenotype and their segregation in family with variably affected members
2020 |
Second Faculty of Medicine
publication
A girl with an inherited central deletion 22q11.21 resulting in DiGeorge syndrome without typical congenital anomalies
2019 |
Second Faculty of Medicine, Central Library of Charles University
publication
Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem
2019 |
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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