检索结果 - Puchmajerová, Alena

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  1. 1
    Mutations in STK11 gene in Czech Peutz-Jeghers patients

    Mutations in STK11 gene in Czech Peutz-Jeghers patients 由 Vasovčák, Peter, Puchmajerová, Alena, Roubalík, Jan, Křepelová, Anna

    出版 2009
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    Inherited ichthyoses: molecular causes of the disease in Czech patients

    Inherited ichthyoses: molecular causes of the disease in Czech patients 由 Borská, Romana, Pinková, Blanka, Réblová, Kamila, Bučková, Hana, Kopečková, Lenka, Němečková, Jitka, Puchmajerová, Alena, Malíková, Marcela, Hermanová, Markéta, Fajkusová, Lenka

    出版 2019
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    Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

    Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations 由 Rudnik-Schöneborn, Sabine, Senderek, Jan, Jen, Joanna C., Houge, Gunnar, Seeman, Pavel, Puchmajerová, Alena, Graul-Neumann, Luitgard, Seidel, Ulrich, Korinthenberg, Rudolf, Kirschner, Janbernd, Seeger, Jürgen, Ryan, Monique M., Muntoni, Francesco, Steinlin, Maja, Sztriha, Laszlo, Colomer, Jaume, Hübner, Christoph, Brockmann, Knut, Van Maldergem, Lionel, Schiff, Manuel, Holzinger, Andreas, Barth, Peter, Reardon, William, Yourshaw, Michael, Nelson, Stanley F., Eggermann, Thomas, Zerres, Klaus

    出版 2013
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