doc. RNDr. Petr Kuglík, CSc.
Head, Section of Genetics and Molecular Biology
Office: bldg. C13/322
Kamenice 753/5
625 00 Brno
Phone: | +420 549 49 5439 |
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E‑mail: |
Total number of publications: 326
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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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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Large-Scale Automated Hollow-Fiber Bioreactor Expansion of Umbilical Cord-Derived Human Mesenchymal Stromal Cells for Neurological Disorders
Neurochemical Research, year: 2020, volume: 45, edition: 1, DOI