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Nicolas Goudin
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Journal Articles

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition

Charles Bayard, Eleonora Segna, Maxime Taverne, Antoine Fraissenon, Quentin Hennocq, Baptiste Periou, Lola Zerbib, Sophia Ladraa, Célia Chapelle, Clément Hoguin, Sophie Kaltenbach, Patrick Villarese, Vahid Asnafi, Christine Broissand, Ivan Nemazanyy, Gwennhael Autret, Nicolas Goudin, Christophe Legendre, François-Jérôme Authier, Thomas Viel, Bertrand Tavitian, Cyril Gitiaux, Sylvie Fraitag, Jean-Paul Duong, Clarisse Delcros, Bernard Sergent, Arnaud Picard, Michael Dussiot, Laurent Guibaud, Roman Khonsari, Guillaume Canaud
Journal: Journal of Experimental Medicine
J Exp Med (2023) 220 (11): e20230926.
https://doi.org/10.1084/jem.20230926
Published: 15 September 2023
View article titled, Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition
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Includes: Supplementary data
Journal Articles

Severe influenza pneumonitis in children with inherited TLR3 deficiency

Hye Kyung Lim, Sarah X.L. Huang, Jie Chen, Gaspard Kerner, Olivier Gilliaux, Paul Bastard, Kerry Dobbs, Nicholas Hernandez, Nicolas Goudin, Mary L. Hasek, Eduardo Javier García Reino, Fabien G. Lafaille, Lazaro Lorenzo, Priya Luthra, Tatiana Kochetkov, Benedetta Bigio, Soraya Boucherit, Flore Rozenberg, Catherine Vedrinne, Michael D. Keller, Yuval Itan, Adolfo García-Sastre, Marie Celard, Jordan S. Orange, Michael J. Ciancanelli, Isabelle Meyts, Qian Zhang, Laurent Abel, Luigi D. Notarangelo, Hans-Willem Snoeck, Jean-Laurent Casanova, Shen-Ying Zhang
Journal: Journal of Experimental Medicine
J Exp Med (2019) 216 (9): 2038–2056.
https://doi.org/10.1084/jem.20181621
Published: 19 June 2019
View article titled, Severe influenza pneumonitis in children with inherited TLR3 deficiency
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Includes: Supplementary data
Journal Articles

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

Yun Ling, Sophie Cypowyj, Caner Aytekin, Miguel Galicchio, Yildiz Camcioglu, Serdar Nepesov, Aydan Ikinciogullari, Figen Dogu, Aziz Belkadi, Romain Levy, Mélanie Migaud, Bertrand Boisson, Alexandre Bolze, Yuval Itan, Nicolas Goudin, Julien Cottineau, Capucine Picard, Laurent Abel, Jacinta Bustamante, Jean-Laurent Casanova, Anne Puel
Journal: Journal of Experimental Medicine
J Exp Med (2015) 212 (5): 619–631.
https://doi.org/10.1084/jem.20141065
Published: 27 April 2015
View article titled, Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis
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