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
2022
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Klinický benefit celoexomového sekvenování pro detekci vzácných genetických variant u dětských pacientů s neurovývojovými poruchami a vzácnými onemocněními
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
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The Biomania Student Scientific Meeting 2022. Book of Abstracts
Year: 2022, type: Editorship of scientific publication
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The clinical benefit of trio-based whole-exome sequencing for the detection of rare pathogenic sequence variants in paediatric patients with undiagnosed neurodevelopmental disorders
Year: 2022, type: Conference abstract
2021
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Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
Frontiers in Genetics, year: 2021, volume: 12, edition: October, DOI
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Effectivity of whole-exome sequencing in copy number variant detection in children with neurodevelopmental disorders
Year: 2021, type: Conference abstract
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Neobvyklý cytogenetický nález u probanda s retardací psychomotorického vývoje a stigmatizací – kazuistika.
Year: 2021, type: Conference abstract
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Whole-exome sequencing as an effective tool for the detection of DNA sequence and structural variants in the pathogenesis of neurodevelopmental disorders
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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Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy
Neurogenetics, year: 2020, volume: 21, edition: 4, DOI