Mgr. Hana Filková
Instructor, Institute of Medical Genetics and Genomics
Phone: | +420 532 23 4745 |
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E‑mail: |
Total number of publications: 79
2023
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Optické mapování genomu – nová éra klinické cytogenetiky?
Year: 2023, type: Conference abstract
2022
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Analýza inaktivace chromozomu X u dětí s neurovývojovými onemocněními s X-vázanými chromozomovými abnormalitami
Year: 2022, type: Appeared in Conference without Proceedings
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Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
Journal of Human Genetics, year: 2022, volume: 67, edition: 4, DOI
2021
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Neobvyklý cytogenetický nález u probanda s retardací psychomotorického vývoje a stigmatizací – kazuistika.
Year: 2021, type: Conference abstract
2020
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Cytogenetické a molekulárně genetické nálezy u pacientky s ICF2 syndromem - kazuistika
Year: 2020, type: Conference abstract
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The clinical utility of targeted NGS in neurodevelopmental disorders: a case of a girl with pontocerebellar hypoplasia caused by TSEN54 gene pathogenic variants
Year: 2020, type: Conference abstract
2019
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"Two hit" model as an explanation of variable expressivity of recurrent submicroscopic chromosomal rearrangements in children with intellectual disability and developmental delay
Year: 2019, type: Conference abstract
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Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
Molecular Medicine Reports, year: 2019, volume: 20, edition: 1, DOI
2017
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The clinical impact of targeted „next-generation“ sequencing in molecular diagnostics of intellectual disabilities and multiple congenital abnormalities
Year: 2017, type: Appeared in Conference without Proceedings
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The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant
Year: 2017, type: Conference abstract