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functional assay
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publication
Functional Assay to Correlate Protein Oligomerization States with Membrane Pore Formation
Publikace bez příslušnosti k fakultě
publication
Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system
2019 |
1. lékařská fakulta
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
1. lékařská fakulta
publication
Identification of a novel, transactivation-defective splicing variant of p53 gene in patients with chronic lymphocytic leukemia
2008 |
1. lékařská fakulta, 3. lékařská fakulta, Lékařská fakulta v Hradci Králové
publication
Současné možnosti laboratorní diagnostiky heparinem indukované trombocytopenie v České republice
2022 |
Publikace bez příslušnosti k fakultě
publication
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023 |
1. lékařská fakulta, Ústřední knihovna
publication
Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2
2023 |
1. lékařská fakulta
publication
Low c-Kit Expression Level Induced by Stem Cell Factor Does Not Compromise Transplantation of Hematopoietic Stem Cells
2016 |
1. lékařská fakulta
publication
Diagnosing Czech Patients with Inherited Platelet Disorders
2022 |
1. lékařská fakulta
publication
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
2016 |
1. lékařská fakulta
publication
Functional differences between neonatal and adult fibroblasts and keratinocytes: Donor age affects epithelial-mesenchymal crosstalk in vitro
2016 |
1. lékařská fakulta, 2. lékařská fakulta
publication
Acyltransferase-mediated selection of the length of the fatty acyl chain and of the acylation site governs activation of bacterial RTX toxins
2020 |
Přírodovědecká fakulta, Ústřední knihovna
publication
Bone marrow transplantation to hosts with regenerating hematopoiesis: Efficiency of transplantation and condition of regenerating bone marrow
Publikace bez příslušnosti k fakultě
publication
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
2023 |
1. lékařská fakulta, Lékařská fakulta v Hradci Králové, 2. lékařská fakulta, Lékařská fakulta v Plzni
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 |
1. lékařská fakulta, Ústřední knihovna
publication
Novel insights into genetic susceptibility for colorectal cancer from transcriptome-wide association and functional investigation
2024 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease
2022 |
2. lékařská fakulta