Search Results - Jan Radvanszky

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  1. 1

    Copy Number Variation: Methods and Clinical Applications by Ondrej Pös, Jan Radvanszky, Jakub Styk, Zuzana Pös, Gergely Buglyó, Michal Kajsik, Jaroslav Budis, Bálint Nagy, Tomas Szemes

    Published in Applied Sciences (2021-01-01)
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  2. 2

    Advancing molecular diagnostics of myotonic dystrophy type 1 using short-read whole genome sequencing by Ingrid Lojova, Marcel Kucharik, Zuzana Pös, Andrej Balaz, Andrea Zatkova, Eva Tothova Tarova, Jaroslav Budis, Ludevit Kadasi, Tomas Szemes, Jan Radvanszky

    Published in Molecular and Cellular Probes (2025-02-01)
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  3. 3

    Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions. by Marcel Kucharik, Andrej Gnip, Michaela Hyblova, Jaroslav Budis, Lucia Strieskova, Maria Harsanyova, Ondrej Pös, Zuzana Kubiritova, Jan Radvanszky, Gabriel Minarik, Tomas Szemes

    Published in PLoS ONE (2020-01-01)
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  4. 4

    Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations by Tomáš Sládeček, Michaela Gažiová, Marcel Kucharík, Andrea Zaťková, Zuzana Pös, Ondrej Pös, Werner Krampl, Erika Tomková, Michaela Hýblová, Gabriel Minárik, Ján Radvánszky, Jaroslav Budiš, Tomáš Szemes

    Published in Scientific Reports (2023-06-01)
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  5. 5

    Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses by Katerina Kvapilova, Pavol Misenko, Jan Radvanszky, Ondrej Brzon, Jaroslav Budis, Juraj Gazdarica, Ondrej Pos, Marie Korabecna, Martin Kasny, Tomas Szemes, Petr Kvapil, Jan Paces, Zbynek Kozmik

    Published in BMC Genomics (2024-02-01)
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  6. 6

    Extracellular DNA Correlates with Intestinal Inflammation in Chemically Induced Colitis in Mice by Martin Maronek, Barbora Gromova, Robert Liptak, Barbora Konecna, Michal Pastorek, Barbora Cechova, Maria Harsanyova, Jaroslav Budis, David Smolak, Jan Radvanszky, Tomas Szemes, Jana Harsanyiova, Alzbeta Kralova Trancikova, Roman Gardlik

    Published in Cells (2021-01-01)
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