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Peter N. Robinson
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Journal Articles

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Clinical Trials & Observations
Luca Stefanucci, Janine Collins, Matthew C. Sims, Inigo Barrio-Hernandez, Luanluan Sun, Oliver S. Burren, Livia Perfetto, Isobel Bender, Tiffany J. Callahan, Kathryn Fleming, Jose A. Guerrero, Henning Hermjakob, Maria J. Martin, James Stephenson, Kalpana Paneerselvam, Slavé Petrovski, Pablo Porras, Peter N. Robinson, Quanli Wang, Xavier Watkins, Mattia Frontini, Roman A. Laskowski, Pedro Beltrao, Emanuele Di Angelantonio, Keith Gomez, Mike Laffan, Willem H. Ouwehand, Andrew D. Mumford, Kathleen Freson, Keren Carss, Kate Downes, Nick Gleadall, Karyn Megy, Elspeth Bruford, Dragana Vuckovic
Journal: Blood
Blood (2023) 142 (24): 2055–2068.
https://doi.org/10.1182/blood.2023020118
Published: 2023
Includes: Supplemental data
Journal Articles

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT

Brief Report
Peter M. Krawitz, Britta Höchsmann, Yoshiko Murakami, Britta Teubner, Ulrike Krüger, Eva Klopocki, Heidemarie Neitzel, Alexander Hoellein, Christina Schneider, Dmitri Parkhomchuk, Jochen Hecht, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Hubert Schrezenmeier
Journal: Blood
Blood (2013) 122 (7): 1312–1315.
https://doi.org/10.1182/blood-2013-01-481499
Published: 2013
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

Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency.

Yoshiko Murakami, MD, PhD, Peter M Krawitz, MD, PhD, Peter N Robinson, MD, PhD, Stefan Mundlos, MD, PhD, Yusuke Maeda, MD, PhD, Taroh Kinoshita, PhD
Journal: Blood
Blood (2010) 116 (21): 2031.
https://doi.org/10.1182/blood.V116.21.2031.2031
Published: 2010