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next-generation sequencing
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RNDr. Markéta Janatová Ph.D.
Academic staff at First Faculty of Medicine
1 class
61 publications
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The use of modern diagnostic and therapeutic methods in neurorehabilitation
B02332 |
First Faculty of Medicine
Publications
publication
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes
2020 |
First Faculty of Medicine, Central Library of Charles University
publication
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
2020 |
First Faculty of Medicine
publication
Genetic analysis of subsequent second primary malignant neoplasms in long-term pancreatic cancer survivors suggests new potential hereditary genetic alterations
2019 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic
2019 |
First Faculty of Medicine
publication
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
2018 |
First Faculty of Medicine
publication
BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
2018 |
First Faculty of Medicine
publication
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model
2017 |
First Faculty of Medicine
publication
CZECANCA: CZEch CAncer paNel for Clinical Application - Design and Optimization of the Targeted Sequencing Panel for the Identification of Cancer Susceptibility in High-risk Individuals from the Czech Republi
2016 |
First Faculty of Medicine
publication
The c.657de15 variant in the NBN gene predisposes to pancreatic cancer
2016 |
First Faculty of Medicine
publication
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
2016 |
First Faculty of Medicine
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