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Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor by Sabine Mellor-Heineke, Julia Skokowa, Natali Gerschmann, Ekaterina Deordieva, Ivan Tesakov, Sally Kinsey, Maja Klaudel-Dreszler, Piero Farruggia, Martina Sukova, Mikael Sundin, Yasmine El Chazli, Tania N. Masmas, Leen Willems, Georg Ebetsberger-Dachs, Hans C. Erichsen, Orna Steinberg-Shemer, Anna Shcherbina, Karl Welte, Cornelia Zeidler
Published 2025-03-01Get full text
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Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP by Julia Fekadu-Siebald, Emilia Salzmann-Manrique, Jan Robert Heusel, Andre Willasch, Fabian Hauck, Luis Ignacio Gonzalez-Granado, Zahra Chavoshzadeh, Samin Sharafian, Franziska Cuntz, Safa Baris, Andrea Finocchi, Mattia Algeri, Roya Sherkat, Maja Klaudel-Dreszler, Cornelia Zeidler, Christine Bellanné-Chantelot, Gerhard Kindle, Blandine Beaupain, Catherine Paillard, Markus Seidel, Peter Bader, Michael H. Albert, Bénédicte Neven, Jean Donadieu, Shahrzad Bakhtiar
Published 2025-04-01Get full text
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