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Julie Toubiana
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Journal Articles

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

Clinical Trials & Observations
Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D. Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel
Journal: Blood
Blood (2016) 127 (25): 3154–3164.
https://doi.org/10.1182/blood-2015-11-679902
Published: 2016
Includes: Supplemental data
Journal Articles

Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss

Tim Ulinski, Bilal Aoun, Julie Toubiana, Renata Vitkevic, Albert Bensman, Jean Donadieu
Journal: Blood
Blood (2009) 113 (19): 4820–4821.
https://doi.org/10.1182/blood-2009-02-204099
Published: 2009