RNDr. Vladimíra Vallová, Ph.D.
Assistant professor, Section of Genetics and Molecular Biology
Office: bldg. C13/322
Kamenice 753/5
625 00 Brno
Phone: | +420 549 49 5446 |
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E‑mail: |
social and academic networks: |
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Total number of publications: 117
2022
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Exómové sekvenovanie ako účinný nástroj pre detekciu intragénových variantov v počte kópií u detských pacientov s neurovývojovými ochoreniami
Year: 2022, type: Appeared in Conference without Proceedings
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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 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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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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Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy
Neurogenetics, year: 2020, volume: 21, edition: 4, DOI
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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