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Variant
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RNDr. Markéta Janatová Ph.D.
Academic staff at First Faculty of Medicine
1 class
61 publications
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class
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
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
2020 |
First Faculty of Medicine
publication
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
2020 |
First Faculty of Medicine
publication
Homologous recombination DNA repair defects in PALB2-associated breast cancers
2019 |
First Faculty of Medicine
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
First Faculty of Medicine
publication
Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance
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
PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic
2016 |
First Faculty of Medicine
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