Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Por Kalfa, Nicolas, Fukami, Maki, Philibert, Pascal, Audran, Francoise, Pienkowski, Catherine, Weill, Jacques, Pinto, Graziella, Manouvrier, Sylvie, Polak, Michel, Ogata, Totsumo, Sultan, Charles
Publicado em 2012

Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation

Por Bar, Céline, Zadro, Charline, Diene, Gwenaelle, Oliver, Isabelle, Pienkowski, Catherine, Jouret, Béatrice, Cartault, Audrey, Ajaltouni, Zeina, Salles, Jean-Pierre, Sevely, Annick, Tauber, Maithé, Edouard, Thomas
Publicado no PLoS One (2015)

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

Por Röhle, Robert, Gehrmann, Katharina, Szarras-Czapnik, Maria, Claahsen-van der Grinten, Hedi, Pienkowski, Catherine, Bouvattier, Claire, Cohen-Kettenis, Peggy, Nordenström, Anna, Thyen, Ute, Köhler, Birgit
Publicado no BMC Endocr Disord (2017)