Hasil Pencarian - Anna Segarra-Roca

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  1. 1
    A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes

    A single‐center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease‐causing genotypes oleh Leo Kager, Raúl Jimenez‐Heredia, Petra Zeitlhofer, Wolfgang Novak, Sebastian K. Eder, Anna Segarra‐Roca, Alexandra Frohne, Karin Nebral, Matthias Haimel, René Geyeregger, Katharina Roetzer‐Londgin, Oskar A. Haas, Kaan Boztug

    Diterbitkan 2024-01-01
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  2. 2
    Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature

    Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature oleh Mazdak Fallahi, Mahnaz Jamee, Javad Enayat, Fahimeh Abdollahimajd, Mehrnaz Mesdaghi, Maliheh Khoddami, Anna Segarra-Roca, Alexandra Frohne, Jasmin Dmytrus, Mohammad Keramatipour, Mahboubeh Mansouri, Golnaz Eslamian, Shahrzad Fallah, Kaan Boztug, Zahra Chavoshzadeh

    Diterbitkan 2022-12-01
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