Search Results - Trizuljak, Jakub

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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 by Doubková, Martina, Trizuljak, Jakub, Vrzalová, Zuzana, Hrazdirová, Anna, Blaháková, Ivona, Radová, Lenka, Pospíšilová, Šárka, Doubek, Michael

    Published 2019
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  2. 2
    Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

    Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin by Trizuljak, Jakub, Petruchová, Terezie, Blaháková, Ivona, Vrzalová, Zuzana, Hořínová, Věra, Doubková, Martina, Michalka, Jozef, Mayer, Jiří, Pospíšilová, Šárka, Doubek, Michael

    Published 2020
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  3. 3
    A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

    A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia by Doubková, Martina, Staňo Kozubík, Kateřina, Radová, Lenka, Pešová, Michaela, Trizuljak, Jakub, Pál, Karol, Svobodová, Klára, Réblová, Kamila, Svozilová, Hana, Vrzalová, Zuzana, Pospíšilová, Šárka, Doubek, Michael

    Published 2019
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  4. 4
    A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

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

    Published 2022
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  5. 5
    Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification

    Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification by Trizuljak, Jakub, Sperr, Wolfgang R., Nekvindová, Lucie, Elberink, Hanneke O., Gleixner, Karoline V., Gorska, Aleksandra, Lange, Magdalena, Hartmann, Karin, Illerhaus, Anja, Bonifacio, Massimiliano, Perkins, Cecelia, Elena, Chiara, Malcovati, Luca, Fortina, Anna B., Shoumariyeh, Khalid, Jawhar, Mohamad, Zanotti, Roberta, Bonadonna, Patrizia, Caroppo, Francesca, Zink, Alexander, Triggiani, Massimo, Parente, Roberta, von Bubnoff, Nikolas, Yavuz, Akif S., Hägglund, Hans, Mattsson, Mattias, Panse, Jens, Jäkel, Nadja, Kilbertus, Alex, Hermine, Olivier, Arock, Michel, Fuchs, David, Sabato, Vito, Brockow, Knut, Bretterklieber, Agnes, Niedoszytko, Marek, van Anrooij, Björn, Reiter, Andreas, Gotlib, Jason, Kluin-Nelemans, Hanneke C., Mayer, Jiri, Doubek, Michael, Valent, Peter

    Published 2020
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