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Genetic diagnosis
Person
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Person
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RNDr. Martina Putzová Ph.D.
Academic staff at Second Faculty of Medicine
7 publications
Publications
publication
Preimplantation genetic diagnostics of monogenic-based diseases: possibilities, pitfalls and first accomplishments in the Czech Republic
2008 |
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
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
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
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