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Journal Articles

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Charlotte Boussard, Laure Delage, Tania Gajardo, Alexandre Kauskot, Maxime Batignes, Nicolas Goudin, Marie-Claude Stolzenberg, Camille Brunaud, Patricia Panikulam, Quentin Riller, Maryse Moya-Nilges, Jean Solarz, Christelle Repérant, Béatrice Durel, Jean-Claude Bordet, Olivier Pellé, Corinne Lebreton, Aude Magérus, Vithura Pirabakaran, Pablo Vargas, Sébastien Dupichaud, Marie Jeanpierre, Angélique Vinit, Mohammed Zarhrate, Cécile Masson, Nathalie Aladjidi, Peter D. Arkwright, Brigitte Bader-Meunier, Sandrine Baron Joly, Joy Benadiba, Elise Bernard, Dominique Berrebi, Christine Bodemer, Martin Castelle, Fabienne Charbit-Henrion, Marwa Chbihi, Agathe Debray, Philippe Drabent, Sylvie Fraitag, Miguel Hié, Judith Landman-Parker, Ludovic Lhermitte, Despina Moshous, Pierre Rohrlich, Frank Ruemmele, Anne Welfringer-Morin, Maud Tusseau, Alexandre Belot, Nadine Cerf-Bensussan, Marie Roelens, Capucine Picard, Bénédicte Neven, Alain Fischer, Isabelle Callebaut, Mickaël Ménager, Fernando E. Sepulveda, Frédéric Adam, Frédéric Rieux-Laucat

Blood (2023) 141 (22): 2713–2726.

https://doi.org/10.1182/blood.2022018486

Published: 2023

Includes: Supplemental data

Journal Articles

The Clinical Severity of Alpha-2 Globin Gene Variants: Homozygosity for Hb Agrinio ( HBA2 : c.89T>C) Leads to Severe Antenatal Anemia, about 8 Cases in 3 Families

Claire Berger, MD, Philippe Joly, PhD, Serge Pissard, PhD, Sandrine Baron-Joly, MD, Yoann Huguenin, MD, Aurélie Cantais, MD, Sophie Brun, MD, Cecile GED, MD, Catherine Badens, PhD PharmD, Muriel Giansily-Blaizot, MD, Aguilar-Martinez Patricia, MD PhD, Isabelle Thuret, MD

Blood (2020) 136 (Supplement 1): 3–4.

https://doi.org/10.1182/blood-2020-134894

Published: 2020