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functional assay
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Functional Assay to Correlate Protein Oligomerization States with Membrane Pore Formation
Publication without faculty affiliation
publication
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system
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
Identification of a novel, transactivation-defective splicing variant of p53 gene in patients with chronic lymphocytic leukemia
2008 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Heparin-induced thrombocytopenia - current options of laboratory diagnostics in the Czech Republic
2022 |
Publication without faculty affiliation
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
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
First Faculty of Medicine
publication
Low c-Kit Expression Level Induced by Stem Cell Factor Does Not Compromise Transplantation of Hematopoietic Stem Cells
2016 |
First Faculty of Medicine
publication
Diagnosing Czech Patients with Inherited Platelet Disorders
2022 |
First Faculty of Medicine
publication
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
2016 |
First Faculty of Medicine
publication
Functional differences between neonatal and adult fibroblasts and keratinocytes: Donor age affects epithelial-mesenchymal crosstalk in vitro
2016 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Acyltransferase-mediated selection of the length of the fatty acyl chain and of the acylation site governs activation of bacterial RTX toxins
2020 |
Faculty of Science, Central Library of Charles University
publication
Bone marrow transplantation to hosts with regenerating hematopoiesis: Efficiency of transplantation and condition of regenerating bone marrow
Publication without faculty affiliation
publication
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
2023 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine, Faculty of Medicine in Pilsen
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
Novel insights into genetic susceptibility for colorectal cancer from transcriptome-wide association and functional investigation
2024 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease
2022 |
Second Faculty of Medicine