Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy by Zapletalová, Eva, Hedvičáková, Petra, Kozák, Libor, Vondráček, Petr, Gaillyová, Renata, Mařı´ková, Tat’ána, Kalina, Zdeněk, Jüttnerová, Věra, Fajkus, Jiřı, Fajkusová, Lenka

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Point mutations in Czech DMD/BMD patients and their phenotypic outcome by Sedláčková, Jana, Vondráček, Petr, Hermanová, Markéta, Zámečník, Josef, Hrubá, Zuzana, Haberlová, Jana, Kraus, Josef, Maříková, Tat’ána, Hedvičáková, Petra, Voháňka, Stanislav, Fajkusová, Lenka

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Homozygous EXOSC3 Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma by Schwabova, Jaroslava, Brozkova, Dana Safka, Petrak, Borivoj, Mojzisova, Mahulena, Pavlickova, Klara, Haberlova, Jana, Mrazkova, Lenka, Hedvicakova, Petra, Hornofova, Ludmila, Kaluzova, Marie, Fencl, Filip, Krutova, Marcela, Zamecnik, Josef, Seeman, Pavel

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Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations by Krutilkova, Vera, Trkova, Marie, Fleitz, Julie, Gregor, Vladimir, Novotna, Kamila, Krepelova, Anna, Sumerauer, David, Kodet, Roman, Siruckova, Simona, Plevova, Pavlina, Bendova, Sarka, Hedvicakova, Petra, Foreman, Nicholas K., Sedlacek, Zdenek

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Molecular and clinical characterization of two patients with Prader-Willi syndrome and atypical deletions of proximal chromosome 15q by Calounova, Gabriela, Hedvicakova, Petra, Silhanova, Eva, Kreckova, Gabriela, Sedlacek, Zdenek

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Array comparative genome hybridization in patients with developmental delay: two example cases by Hancarova, Miroslava, Drabova, Jana, Zmitkova, Zuzana, Vlckova, Marketa, Hedvicakova, Petra, Novotna, Drahuse, Vlckova, Zdenka, Vejvalkova, Sarka, Marikova, Tatana, Sedlacek, Zdenek

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A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration by Musova, Zuzana, Hedvicakova, Petra, Mohrmann, Marketa, Tesarova, Marketa, Krepelova, Anna, Zeman, Jiri, Sedlacek, Zdenek

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A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors by Trkova, Marie, Foretova, Lenka, Kodet, Roman, Hedvicakova, Petra, Sedlacek, Zdenek

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A state-of-the-art appraisal of bankruptcy prediction models focussing on the field’s core authors: 2010–2022 by Soukal, Ivan, Mačí, Jan, Trnková, Gabriela, Svobodova, Libuse, Hedvičáková, Martina, Hamplova, Eva, Maresova, Petra, Lefley, Frank

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Consequences of Industry 4.0 in business and economics by Maresova, Petra, Soukal, Ivan, Svobodova, Libuse, Hedvicakova, Martina, Javanmardi, Ehsan, Selamat, Ali, Krejcar, Ondrej

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