Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome by Frédéric Vély, Frédéric Vély, Vincent Barlogis, Evelyne Marinier, Marie-Edith Coste, Béatrice Dubern, Emmanuelle Dugelay, Julie Lemale, Christine Martinez-Vinson, Noël Peretti, Ariane Perry, Patrice Bourgeois, Patrice Bourgeois, Catherine Badens, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Jean-Pierre Hugot, Jean-Pierre Hugot, Catherine Farnarier, Alexandre Fabre, Alexandre Fabre

Get full text

Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations by Caroline de Gouveia Buff Passone, Caroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, Willem Staels, Willem Staels, Alix Besancon, Dulanjalee Kariyawasam, Dulanjalee Kariyawasam, Cécile Godot, Cécile Lambe, Cécile Talbotec, Cécile Talbotec, Muriel Girard, Christophe Chardot, Laureline Berteloot, Taymme Hachem, Alexandre Lapillonne, Amélie Poidvin, Caroline Storey, Mathieu Neve, Cosmina Stan, Emmanuelle Dugelay, Anne-Laure Fauret-Amsellem, Yline Capri, Hélène Cavé, Marina Ybarra, Vikash Chandra, Vikash Chandra, Raphaël Scharfmann, Elise Bismuth, Michel Polak, Jean Claude Carel, Bénédicte Pigneur, Jacques Beltrand, Jacques Beltrand, Jacques Beltrand

Get full text