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Aneuploidy of chromosomes 13, 18, 21, X, Y
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RNDr. Martina Putzová Ph.D.
Academic staff at Second Faculty of Medicine
7 publications
Publications
publication
Quantitative fluorescent polymerase chain reaction (QFPCR) in the prenatal and postnatal diagnosis of the most frequent aneuploide
2003 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
publication
Multi-center real-world comparison of the fully automated IdyllaTM microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer
2021 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Benefits of targeted sequencing in noninvasive prenatal testing
2017 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Preimplantation genetic diagnostics of monogenic-based diseases: possibilities, pitfalls and first accomplishments in the Czech Republic
2008 |
Second Faculty of Medicine
publication
QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe
2005 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
The possibilities of molecular-genetic diagnostics of myotonic dystrophy type 1
2004 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
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