MUDr. Jakub Trizuljak
Assistant professor, Department of Internal Medicine, Hematology and Oncology
Correspondence Address:
Jihlavská 340/20, 625 00 Brno
Phone: | +420 532 23 3559, 3603 |
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E‑mail: |
social and academic networks: |
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Total number of publications: 52
2019
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A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
Year: 2019, type: Conference abstract
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A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
HUMAN GENOME VARIATION, year: 2019, volume: 6, edition: MAR, DOI
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A rare diagnosis: Hermansky-Pudlak syndrome i a patient eith pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy
Year: 2019, type: Conference abstract
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A rare diagnosis: Hermansky-Pudlak syndrome in a patient with pulmonary fibrosis, oculocutaneous albinism and thrombocytopathy
Year: 2019, type: Conference abstract
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Cílená terapie chronické lymfocytární leukemie
Acta medicinae, year: 2019, volume: 8, edition: 11
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Familial leukemia associated with thrombocytopenia
Germ Line Mutations Associated Leukemia, year: 2019, number of pages: 16 s.
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Characterization of causal variants associated with hereditary thrombocytopenias.
Year: 2019, type: Conference abstract
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Charakterizace patogenních variant u rodin s výskytem dědičné trombocytopenie – kazuistiky.
Year: 2019, type: Conference abstract
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Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report
BMC Pulmonary Medicine, year: 2019, volume: 19, edition: 1, DOI
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Vyšetření dědičných predispozic k nádorovým onemocněním metodou NGS – dosavadní výsledky a nejasné případy.
Year: 2019, type: Conference abstract