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Sushree Sangita Sahoo, M.Sc.
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Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Free
Enikoe Amina Szvetnik, Christian Klemann, Ina Hainmann, Marie-Francoise O'-Donohue, Tamás Farkas, Marena Niewisch, Regine Grosse, MD, Gabriele Escherich, MD, Sule Unal, Naz Guleray, Muge Gokce, Lydie Da Costa, Thierry LeBlanc, MD, Hélène Dollfus, Eusebia Lara-Villacanas, Thomas Wiesel, Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Doris Steinemann, PhD, Myriam Lorenz, Klaus Schwarz, Stephan Ehl, Michael Hershfield, Pierre-Emmanuel Gleizes, Charlotte M. Niemeyer, MD, Alyson W. MacInnes, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 874.
https://doi.org/10.1182/blood.V130.Suppl_1.874.874
Published: 2017
Journal Articles

Constitutional SAMD9L Mutations Cause Familial Myelodisplastic Syndrome with Monosomy 7 and Stable Revertant Mosaicism

Free
Victor Pastor Loyola, MSc, Sushree Sangita Sahoo, M.Sc., Jessica Boklan, MD, Georg Schwabe, PD Dr. MD, Brigitte Strahm, PD Dr., Dirk Lebrecht, PhD, Matthias Voss, PhD, Yenan T Bryceson, PhD, Miriam Erlacher, MD PhD, Gerhard Ehninger, Marena Niewisch, MD, Brigitte Schlegelberger, Prof. Dr., Irith Baumann, Dr. MD, John Achermann, MD PhD, Akiko Shimamura, MD, Jochen Hochrein, PhD, Ulf Tedgaard, MD PhD, Lars Nilsson, PhD, Henrik Hasle, MD PhD, Melanie Börries, PhD, Hauke Busch, PhD, Charlotte M. Niemeyer, MD, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 1672.
https://doi.org/10.1182/blood.V130.Suppl_1.1672.1672
Published: 2017
Journal Articles

Systematic Assessment of GATA2 Genetic Variation Reveals the Presence of Novel Disease-Causing Synonymous Exonic Mutations

Free
Emilia J Kozyra, Victor Pastor Loyola, MSc, Claudia Wehr, Sushree Sangita Sahoo, M.Sc., Rebecca Voss, Enikoe Amina Szvetnik, Shinsuke Hirabayashi, MD, Albert Catala, Henrik Hasle, MD PhD, Marry M. Van den Heuvel-Eibrink, MD, Krisztián Kallay, MD, Riccardo Masetti, MDPhD, Barbara De Moerloose, MD PhD, Markus Schmugge, MD, Owen Smith, MD, Marek Ussowicz, Jan Stary, Ester Mejstrikova, Ramunė Pasaulienė, Irith Baumann, Dr. MD, Gudrun Göhring, MD, Brigitte Schlegelberger, Prof. Dr., Ulrich Salzer, Michael Lübbert, Eirini Trompouki, PhD, Charlotte M. Niemeyer, MD, Marcin W. Wlodarski, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2449.
https://doi.org/10.1182/blood.V130.Suppl_1.2449.2449
Published: 2017