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r347p mutation
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MUDr. Petra Kleiblová Ph.D.
Academic staff at First Faculty of Medicine
77 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
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex
2023 |
First Faculty of Medicine, Faculty of Science
publication
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023 |
First Faculty of Medicine, Central Library of Charles University
publication
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Polygenic risk score (PRS) and its potential for breast cancer risk stratification
2023 |
First Faculty of Medicine
publication
Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?
2023 |
First Faculty of Medicine
publication
Comprehensive quantitative analysis of alternative splicing variants reveals the HNF1B mRNA splicing pattern in various tumour and non-tumour tissues
2022 |
First Faculty of Medicine
publication
Další geny s rizikem vzniku nádorů prsu a ovarií
2022 |
First Faculty of Medicine
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
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