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    Clinical and Molecular Heterogeneity of RTEL1 Deficiency

    Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Liliana Annette Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Brigitte Strahm, Stephan Ehl, Charlotte Niemeyer, Marcin W. Wlodarski

     · 2017

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    Synonymous GATA2 Mutations Result in Selective Loss of Mutated RNA and are Common in Patients with GATA2 Deficiency

    Emilia J. Kozyra, Victor Bengt Pastor Loyola, Stylianos Lefkopoulos, Sushree Sangita Sahoo, Hauke Busch, Rebecca K. Voss, Miriam Erlacher, Dirk Lebrecht, Amina Szvetnik, Shinsuke Hirabayashi, Patrick Metzger, Melanie Börries, Christian Flotho, Brigitte Strahm, Marcin W. Wlodarski

     · 2020

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    Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency

    Carsten Speckmann, Sushree Sangita Sahoo, Marta Rizzi, Shinsuke Hirabayashi, Liliana Annette Rindle, Maximilian Seidl, Anne Rensing-Ehl, Ekkehart Lausch, Brigitte Strahm, Stephan Ehl, Charlotte Niemeyer, Marcin W. Wlodarski

     · 2017

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