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Journal Articles

Mutation-Specific Dominant Negative Effects Determine the Phenotype in SRP54 D eficiency

Christoph Schuerch, MSc, Thorsten Schaefer, PhD, Joelle S. Müller, MSc, Pauline Hanns, MSc, Jonas Schärer, BSc, Julia Skokowa, MD PhD, Karl Welte, Raphael Carapito, PhD, Seiamak Bahram, MD, Martina Konantz, PhD, Claudia Lengerke, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 437.
https://doi.org/10.1182/blood-2019-127007
Published: 2019
Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3580.
https://doi.org/10.1182/blood-2019-131136
Published: 2019
Journal Articles

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

Yoko Mizoguchi, MD PhD, Sebastian Hesse, MD, Monika Linder, PhD, Natalia Zietara, PhD, Marcin Lyszkiewicz, PhD, Yanshan Liu, PhD, Megumi Tatematsu, PhD, Piotr Grabowski, PhD, Kaarin Ahomaa, Tim Jeske, MSc, Sebastian Hollizeck, MSc, Ejona Rusha, Megumu K Saito, MD PhD, Masao Kobayashi, MD PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Sorin Iurian, MD PhD, Nima Rezaei, MD PhD, Ekrem Unal, MD, Micha Drukker, PhD, Barbara Walzog, PhD, Fabian Hauck, MD PhD, Juri Rappsilber, PhD, Christoph Klein, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 216.
https://doi.org/10.1182/blood-2019-130083
Published: 2019
Journal Articles

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Christine Bellanné-Chantelot, PharmD, PhD, Caroline Marty, PhD, Barbara Schmaltz-Panneau, PhD, Odile Fenneteau, MD, Isabelle Callebaut, PhD, Séverine Clauin, Aurélie Docet, Gandhi Damaj, MD, Thierry Leblanc, MD, Isabelle Pellier, MD, Cécile Stoven, MD, Sylvie Souquere, PhD, Iléana Antony-Debre, PhD, Blandine Beaupain, MsC, Nathalie Aladjidi, MD, Vincent Barlogis, MD, Frederic Bauduer, MD PhD, Philippe Bensaid, MD, Odile Boesflug-Tanguy, MDPhD, Claire Berger, MD, Yves Bertrand, MD, Liana Carausu, MD, Claire Fieschi, MD PhD, Claire Galambrun, MD, Aline Schmidt, MD, Hubert Journel, MD, Francoise Mazingue, MD, Brigitte Nelken, MD, Thuan Chong Quah, MD, Eric Oksenhendler, MD, Marie Ouachee, MD, Marlène Pasquet, MD, Felipe Suarez, MDPhD, Gérard Pierron, PhD, William Vainchenker, MD PhD, Isabelle Plo, PhD, Jean Donadieu, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): LBA-3.
https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3
Published: 2017
Journal Articles

Beyond mRNAs and Mirnas: Unraveling the Full-Spectrum of the Normal Human Platelet Transcriptome Through Next-Generation Sequencing

Eric R. Londin, PhD, Eleftheria Hatzimichael, MD, PhD, Phillipe Loher, BS, Yue Zhao, PhD, Yi Jing, MD, PhD, Huang Chen, PhD, Leonard C. Edelstein, PhD, Srikanth Nagalla, MD, MS, Kathleen Delgrosso, MS, Adam Ertel, PhD, Joan Kupper, BS, Paolo M. Fortina, MD, PhD, Steven E. McKenzie, MD, PhD, Paul F. Bray, MD, Isidore Rigoutsos, PhD
Journal: Blood
Blood (2012) 120 (21): 3298.
https://doi.org/10.1182/blood.V120.21.3298.3298
Published: 2012