Mgr. Kamila Réblová, Ph.D.
Senior researcher, Šárka Pospíšilová Research Group
Office: bldg. E35/218
Kamenice 753/5
625 00 Brno
Phone: | +420 549 49 7586 |
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E‑mail: |
social and academic networks: |
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Total number of publications: 105
2018
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A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome
Platelets, year: 2018, volume: 29, edition: 8, DOI
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C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies
International journal of hematology, year: 2018, volume: 108, edition: 6, DOI
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Detekce patogenních variant u rodin s výskytem dědičného onemocnění metodou celoexomového sekvenování – kazuistiky
Year: 2018, type: Conference abstract
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Determination of causal variants in iherited thrombocytopenias
Year: 2018, type: Conference abstract
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Phylogenetic classification and generic delineation of Calyptosphaeria gen. nov., Lentomitella, Spadicoides and Torrentispora (Sordariomycetes)
Studies in Mycology, year: 2018, volume: 2018, edition: 89, DOI
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Role of Inosine-Uracil Base Pairs in the Canonical RNA Duplexes
GENES, year: 2018, volume: 9, edition: 7, DOI
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Stanovení kauzálních variant u dědičných trombocytopenií
Year: 2018, type: Conference abstract
2017
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DNA mutation motifs in the genes associated with inherited diseases
Plos one, year: 2017, volume: 12, edition: 8, DOI
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Functional and structural characterisation of 5 missense mutations of the phenylalanine hydroxylase
General physiology and biophysics, year: 2017, volume: 36, edition: 4, DOI
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Label-free chronopotentiometric glycoprofiling of prostate specific antigen using sialic acid recognizing lectins
Bioelectrochemistry, year: 2017, volume: 117, edition: October, DOI