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Hledat publikace relevantní k dotazu "germline variants"
germline variants
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Publikace
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publication
Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer
2022 |
Lékařská fakulta v Plzni
publication
A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer
2021 |
Lékařská fakulta v Plzni
publication
Whole-Exome Sequencing Identifies a Novel Germline Variant in PTK7 Gene in Familial Colorectal Cancer
2022 |
Lékařská fakulta v Plzni
publication
CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate
2020 |
1. lékařská fakulta
publication
Rare deleterious germline variants and risk of lung cancer
2021 |
2. lékařská fakulta
publication
Characterization of rare germline variants in familial multiple myeloma
2021 |
Lékařská fakulta v Plzni
publication
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
2022 |
Lékařská fakulta v Plzni
publication
A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient
2015 |
1. lékařská fakulta
publication
Germline variants of the promyelocytic leukemia tumor suppressor gene in patients with familial cancer
2009 |
2. lékařská fakulta
publication
Klasifikace zárodečných variant identifikovaných při genetickém vyšetření nádorové predispozice – konsenzus konzorcia CZECANCA
2023 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
A Germline Mutation in the POT1 Gene Is a Candidate for Familial Non-Medullary Thyroid Cancer
2020 |
Lékařská fakulta v Plzni
publication
Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer
2021 |
Lékařská fakulta v Plzni
publication
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer
2021 |
Lékařská fakulta v Plzni
publication
Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
2020 |
Lékařská fakulta v Plzni
publication
Genetic insights into biological mechanisms governing human ovarian ageing
2021 |
Přírodovědecká fakulta
publication
JAK2 p.G571S in B-cell precursor acute lymphoblastic leukemia: a synergizing germline susceptibility
2019 |
2. lékařská fakulta
publication
Colorectal cancer risk and patients' survival: influence of polymorphisms in genes somatically mutated in colorectal tumors
2014 |
1. lékařská fakulta
publication
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
2019 |
2. lékařská fakulta
publication
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 |
2. lékařská fakulta
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
1. lékařská fakulta, Přírodovědecká fakulta, Ústřední knihovna
publication
Germline and somatic genetic variability of oxysterol-related genes in breast cancer patients with early disease of the luminal subtype
2022 |
2. lékařská fakulta, 1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma
2023 |
Lékařská fakulta v Plzni
publication
Pharmacogenomics to Predict Tumor Therapy Response: A Focus on ATP-Binding Cassette Transporters and Cytochromes P450
2020 |
1. lékařská fakulta, Lékařská fakulta v Plzni
publication
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
2022 |
2. lékařská fakulta
publication
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers
2020 |
1. lékařská fakulta, Lékařská fakulta v Plzni, Přírodovědecká fakulta, Ústřední knihovna
publication
Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response
2020 |
Lékařská fakulta v Plzni
publication
Role of Genetic Variation in Cytochromes P450 in Breast Cancer Prognosis and Therapy Response
2021 |
Lékařská fakulta v Plzni
publication
Germline SUCLG2 Variants in Patients With Pheochromocytoma and Paraganglioma
2022 |
Přírodovědecká fakulta, Ústřední knihovna
publication
Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing
2018 |
2. lékařská fakulta
publication
Somatic genetic alterations in a large cohort of pediatric thyroid nodules
2019 |
2. lékařská fakulta