prof. MUDr. Tomáš Freiberger, Ph.D.
Professor, Department of Clinical Immunology and Allergology
Total number of publications: 284
2024
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Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene
WORLD ALLERGY ORGANIZATION JOURNAL, year: 2024, volume: 17, edition: 3, DOI
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Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia
Journal of Clinical Lipidology, year: 2024, DOI
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LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
LIPIDS IN HEALTH AND DISEASE, year: 2024, volume: 23, edition: 1, DOI
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Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs
Nucleic acids research, year: 2024, DOI
2023
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2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance
European heart journal, year: 2023, volume: 44, edition: 25, DOI
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Epidemiological Changes and Improvement in Outcomes of Infective Endocarditis in Europe in the Twenty-First Century: An International Collaboration on Endocarditis (ICE) Prospective Cohort Study (2000-2012)
INFECTIOUS DISEASES AND THERAPY, year: 2023, volume: 12, edition: 4, DOI
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Genetické vyšetření v kardiologii:Souhrnné vyjádření a doporučení odborníků Pracovní skupiny kardiogenetiky při ČAPK/ČKS , SLG a ČSSL a ST při ČLS JEP
COR ET VASA, year: 2023, volume: 65, edition: 5, DOI
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Impact of an intronic variant in RAD50 on RNA splicing due to inefficient branch point recognition.
Year: 2023, type: Conference abstract
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Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity
FRONTIERS IN GENETICS, year: 2023, volume: 14, edition: July 2023, DOI
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PLAUR alternative splice pattern analysis during monocyte-to-macrophage differentiation in healthy volunteers and patients with rheumatoid arthritis and bronchial asthma
Year: 2023, type: Conference abstract