Mgr. Markéta Wayhelová, Ph.D.
Office: bldg. C03/314
Kamenice 753/5
625 00 Brno
Phone: | +420 549 49 8984 |
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Total number of publications: 32
2020
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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
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The Biomania Student Scientific Meeting & EUSynBioS Symposium 2019
Year: 2019, type:
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The Biomania Student Scientific Meeting & EUSynBioS Symposium 2019. Book of Abstracts
Year: 2019, type:
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The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
BMC MEDICAL GENOMICS, year: 2019, volume: 12, edition: 1, DOI
2017
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The Biomania Student Scientific Meeting 2017
Year: 2017, type:
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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
2016
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Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM).
Neoplasma, year: 2016, volume: 63, edition: 5, DOI