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Giridharan Appaswamy
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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
Journal Articles

The phenotype of human STK4 deficiency

Hengameh Abdollahpour, Giridharan Appaswamy, Daniel Kotlarz, Jana Diestelhorst, Rita Beier, Alejandro A. Schäffer, E. Michael Gertz, Axel Schambach, Hans H. Kreipe, Dietmar Pfeifer, Karin R. Engelhardt, Nima Rezaei, Bodo Grimbacher, Sabine Lohrmann, Roya Sherkat, Christoph Klein
Journal: Blood
Blood (2012) 119 (15): 3450–3457.
https://doi.org/10.1182/blood-2011-09-378158
Published: 2012
Includes: Supplemental data
Journal Articles

G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis

Jana Diestelhorst, Daniel Kotlarz, Giridharan Appaswamy, PhD, Rita Beier, MD, Peter M Krawitz, MD, PhD, Peter N Robinson, MD, PhD, Jochen Hecht, PhD, Jacek Puchalka, PhD, Alejandro A. Schäffer, PhD, Dietmar Pfeifer, PhD, Ulrich Baumann, MD, Eva-Doreen Pfister, MD, Gudrun Brandes, PhD, Gabriella Palla, MD, Roland Jacobs, PhD, Hans H. Kreipe, MD, Stefan Mundlos, MD, Christoph Klein, MD, PhD
Journal: Blood
Blood (2011) 118 (21): 2170.
https://doi.org/10.1182/blood.V118.21.2170.2170
Published: 2011
Journal Articles

The Phenotype of Human STK4 Deficiency

Hengameh Abdollahpour, MD, PhD, Giridharan Appaswamy, PhD, Rita Beier, MD, Alejandro A. Schäffer, PhD, E. Michael Gertz, PhD, Hans H. Kreipe, MD, Dietmar Pfeifer, PhD, Bodo Grimbacher, MD, Sabine Lohrmann, MD, Roya Sherkat, MD, Christoph Klein, MD, PhD
Journal: Blood
Blood (2011) 118 (21): 692.
https://doi.org/10.1182/blood.V118.21.692.692
Published: 2011
Journal Articles

Comparative Analysis of Aberrant Autophagy in HAX1-Mutated and ELANE/ELA2-Mutated Neutrophil Granulocytes.

Giridharan Appaswamy, MSc, Kaan Boztug, MD, Rebecca Elisabeth Rittner, MD, Gudrun Brandes, MD, Karl Welte, MD, Cornelia Zeidler, MD, Christoph Klein, MD, PhD
Journal: Blood
Blood (2009) 114 (22): 550.
https://doi.org/10.1182/blood.V114.22.550.550
Published: 2009
Journal Articles

A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

Kaan Boztug, Giridharan Appaswamy, Angel Ashikov, Alejandro A Schäffer, Ulrich Salzer, Jana Diestelhorst, Manuela Germeshausen, Gudrun Brandes, Jacqueline Lee-Gossler, Fatih Noyan, Anna-Katherina Gatzke, Milen Minkov, Johann Greil, Christian Kratz, Theoni Petropoulou, Isabelle Pellier, Christine Bellanne-Chantelot, Nima Rezaei, Kirsten Mönkemöller, Noha Irani-Hakimeh, Hans Bakker, Rita Gerardy-Schahn, Cornelia Zeidler, Bodo Grimbacher, Karl Welte, Christoph Klein
Journal: Blood
Blood (2008) 112 (11): 5.
https://doi.org/10.1182/blood.V112.11.5.5
Published: 2008