Hasil Pencarian - Lenka Nosková

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  1. 1
    Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

    Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene oleh Nabil El-Lababidi, Marie Zikánová, Alice Baxová, Lenka Nosková, Alena Leiská, Lukáš Lambert, Tomáš Honzík, Jiří Zeman

    Diterbitkan 2020-10-01
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  2. 2
    Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report

    Dystonia: A novel sign of the Smith-Magenis syndrome – A three-case report oleh Lukáš Kunc, Petra Havránková, Matěj Škorvánek, Iva Příhodová, Kamila Poláková, Lenka Nosková, Markéta Tesařová, Tomáš Honzík, Michael Zech, Robert Jech

    Diterbitkan 2024-01-01
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  3. 3
    ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

    ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability oleh Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

    Diterbitkan 2023-04-01
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  4. 4
    Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

    Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing oleh Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch

    Diterbitkan 2020-07-01
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