Mgr. Kateřina Staňo Kozubík, Ph.D.
Senior researcher, Šárka Pospíšilová Research Group
Office: bldg. E35/295
Kamenice 753/5
625 00 Brno
Phone: | +420 532 23 4623 |
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E‑mail: |
social and academic networks: |
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Total number of publications: 106
2022
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Loss of heterozygosity in EIF3F gene leading to intellectual disability in two siblings.
Year: 2022, type: Conference abstract
2021
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Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study
haematologica, year: 2021, volume: 106, edition: 3, DOI
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Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia
Platelets, year: 2021, volume: 32, edition: 6, DOI
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Functional analysis of new variant GP1BA gene in inherited macrotrombocytopenia.
Year: 2021, type: Conference abstract
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Kongenitální neutropenie u dětí a dospělých
Transfúze a hematologie dnes, year: 2021, volume: 27, edition: 4, DOI
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Molekulárně genetická diagnostika familiárních onemocnění krvetvorby.
Year: 2021, type: Conference abstract
2020
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Epigenetic clock as a correlate of anxiety
NeuroImage, year: 2020, volume: 28, edition: 2020, DOI
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Functional testing of gene variants in inherited thrombocytopenias.
Year: 2020, type: Conference abstract
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Characterization of pathogenic variants associated with hereditary thrombocytopenias in families from the Czech republic.
Year: 2020, type: Conference abstract
2019
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A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia
Year: 2019, type: Conference abstract