Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infant

por Galderisi, Alfonso, Kermorvant‐Duchemin, Elsa, Daruich, Alejandra, Bonnard, Adeline Alice, Lapillonne, Alexandre, Aubelle, Marie‐Stéphanie, Perrella, Bruna, Vial, Yoann, Cave, Héléne, Berdugo, Marianne, Jarreau, Pierre‐Henri, Polak, Michel, Beltrand, Jacques
Publicado 2023

Cherubism as a systemic skeletal disease: evidence from an aggressive case

por Morice, Anne, Joly, Aline, Ricquebourg, Manon, Maruani, Gérard, Durand, Emmanuel, Galmiche, Louise, Amiel, Jeanne, Vial, Yoann, Cavé, Hélène, Belhous, Kahina, Piketty, Marie, Cohen-Solal, Martine, Berdal, Ariane, Collet, Corinne, Picard, Arnaud, Coudert, Amelie E., Kadlub, Natacha
Publicado 2020

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways

por Duerinckx, Sarah, Jacquemin, Valérie, Drunat, Séverine, Vial, Yoann, Passemard, Sandrine, Perazzolo, Camille, Massart, Annick, Soblet, Julie, Racapé, Judith, Desmyter, Laurence, Badoer, Cindy, Papadimitriou, Sofia, Le Borgne, Yann‐Aël, Lefort, Anne, Libert, Frédérick, De Maertelaer, Viviane, Rooman, Marianne, Costagliola, Sabine, Verloes, Alain, Lenaerts, Tom, Pirson, Isabelle, Abramowicz, Marc
Publicado 2019

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome

por Motta, Marialetizia, Solman, Maja, Bonnard, Adeline A, Kuechler, Alma, Pantaleoni, Francesca, Priolo, Manuela, Chandramouli, Balasubramanian, Coppola, Simona, Pizzi, Simone, Zara, Erika, Ferilli, Marco, Kayserili, Hülya, Onesimo, Roberta, Leoni, Chiara, Brinkmann, Julia, Vial, Yoann, Kamphausen, Susanne B, Thomas-Teinturier, Cécile, Guimier, Anne, Cordeddu, Viviana, Mazzanti, Laura, Zampino, Giuseppe, Chillemi, Giovanni, Zenker, Martin, Cavé, Hélène, den Hertog, Jeroen, Tartaglia, Marco
Publicado 2022