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narcolepsy with cataplexy
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RNDr. Marianna Borecká Ph.D.
Academic staff at First Faculty of Medicine
16 publications
Publications
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Science
publication
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study
2021 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine
publication
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
2021 |
First Faculty of Medicine
publication
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
2020 |
First Faculty of Medicine
publication
Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon
2019 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, Central Library of Charles University
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
Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers
2019 |
First Faculty of Medicine, Third 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
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