Hasil Pencarian - Jakub Trizuljak

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  1. 1
    Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

    Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report oleh Martina Doubková, Jakub Trizuljak, Zuzana Vrzalová, Anna Hrazdirová, Ivona Blaháková, Lenka Radová, Šárka Pospíšilová, Michael Doubek

    Diterbitkan 2019-10-01
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  2. 2
    A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome

    A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome oleh Jakub Trizuljak, Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Karol Pál, Kamila Réblová, Olga Stehlíková, Petr Smejkal, Jiřina Zavřelová, Milan Pacejka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek

    Diterbitkan 2018-11-01
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  3. 3
    Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree

    Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree oleh Jakub Trizuljak, Paulína Likavcová, Kateřina Staňo Kozubík, Zuzana Vrzalová, Jakub Hynšt, Tereza Deissová, Jiří Štika, Lenka Radová, Marie Prudková, Jana Vaculová, Ivona Blaháková, Petr Smejkal, Jan Kamelander, Šárka Pospíšilová, Michael Doubek

    Diterbitkan 2024-12-01
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  4. 4
    A <i>GP1BA</i> Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

    A <i>GP1BA</i> Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome oleh Magdalena Skalníková, Kateřina Staňo Kozubík, Jakub Trizuljak, Zuzana Vrzalová, Lenka Radová, Kamila Réblová, Radka Holbová, Terézia Kurucová, Hana Svozilová, Jiří Štika, Ivona Blaháková, Barbara Dvořáčková, Marie Prudková, Olga Stehlíková, Michal Šmída, Leoš Křen, Petr Smejkal, Šárka Pospíšilová, Michael Doubek

    Diterbitkan 2022-01-01
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