Mgr. Ivona Blaháková
Deputy Core Facility Leader, Genomics Core Facility
Office: bldg. E35/255
Kamenice 753/5
625 00 Brno
Phone: | +420 549 49 6997 |
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E‑mail: |
social and academic networks: |
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Total number of publications: 43
2022
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Genetická diagnostika familiárních onemocnění krvetvorby a stanovení jejich funkčního dopadu.
Year: 2022, type: Conference abstract
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Loss of heterozygosity inEIF3F gene leading to intellectual disability in two siblings
Year: 2022, type: Conference abstract
2021
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Detekce kauzálních variant u hereditárních nádorových sysndromů kombinací metod NGS a DigiMLPA.
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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Dědičná trombocytopenie na podkladě patogenní varianty genu MYH9 diagnostikovaná u dospělé ženy.
Transfúze a hematologie dnes, year: 2020, volume: 26, edition: 4
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Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin
Molecular Syndromology, year: 2020, volume: 11, edition: 2, DOI
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Double-hit mutace u pacientky s karcinomem ovaria a neurofibromatózou.
Year: 2020, type: Conference abstract
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Uncovering rare hematological entities: Shwachman-Diamond syndrome in a pair of siblings with neutropenia and recurrent infections.
Year: 2020, type: Conference abstract
2019
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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