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Päivi M. Järvinen
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Journal Articles

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Alexa Triot, Päivi M. Järvinen, Juan I. Arostegui, Dhaarini Murugan, Naschla Kohistani, José Luis Dapena Díaz, Tomas Racek, Jacek Puchałka, E. Michael Gertz, Alejandro A. Schäffer, Daniel Kotlarz, Dietmar Pfeifer, Cristina Díaz de Heredia Rubio, Mehmet Akif Ozdemir, Turkan Patiroglu, Musa Karakukcu, José Sánchez de Toledo Codina, Jordi Yagüe, Ivo P. Touw, Ekrem Unal, Christoph Klein
Journal: Blood
Blood (2014) 123 (24): 3811–3817.
https://doi.org/10.1182/blood-2013-11-535419
Published: 2014
Includes: Supplemental data
Journal Articles

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Alexa Triot, Päivi M Järvinen, Juan I. Arostegui, MD, Tomas Racek, PhD, Jacek Puchalka, Jose Luis Dapena Díaz, MD, Naschla Kohistani, MD, E. Michael Gertz, PhD, Alejandro A. Schäffer, Cristina Díaz de Heredia Rubio, MD, Mehmet A. Ozdemir, MD, Turkan Patiroglu, MD, Musa Karakukcu, MD, José Sanchez de Toledo Codina, MD, Jordi Yagüe, MD, PhD, Ekrem Unal, Christoph Klein, MD PhD
Journal: Blood
Blood (2013) 122 (21): 1025.
https://doi.org/10.1182/blood.V122.21.1025.1025
Published: 2013
Journal Articles

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

Kaan Boztug, Päivi M Järvinen, Elisabeth Salzer, Tomas Racek, PhD, Sebastian Mönch, Wojciech Garncarz, E. Michael Gertz, Alejandro A. Schäffer, Aristotelis Antonopoulos, Stuart Haslam, Lena Ziesenitz, Jacek Puchalka, Jana Diestelhorst, Giridharan Appaswamy, Brigitte Lescoeur, Roberto Giambruno, Johannes Bigenzahn, Ulrich Elling, Dietmar Pfeifer, Karl Welte, Prof. Dr. med., Gudrun Brandes, Roya Sherkat, Jutte Van der Werff Ten Bosch, Nima Rezaei, Amos Etzioni, Christine Bellanne-Chantelot, Giulio Superti-Furga, PhD, Keiryn L Bennett, PhD, Julia von Blume, Anne Dell, Jean Donadieu, Christoph Klein, MD PhD
Journal: Blood
Blood (2013) 122 (21): 439.
https://doi.org/10.1182/blood.V122.21.439.439
Published: 2013