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Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene Mancini, Maxence; Chapurlat, Roland; Isidor, Bertrand; Desjonqueres, Marine; Couture, Guillaume; Guggenbuhl, Pascal; Coutant, Regis; El Chehadeh, Salima; Fradin, Melanie; Frazier, Aline; Goldenberg, Alice; Guillot, Pascaline; Koumakis, Eugenie; Mehsen-Cetre, Nadia; Rossi, Massimiliano; Schaefer, Elise; Sigaudy, Sabine; Porquet-Bordes, Valerie; Fontanges, Elisabeth; Letard, Pauline; Edouard, Thomas; Javier, Rose-Marie; Cohen-Solal, Martine; Funck-Brentano, Thomas; Collet, Corinne Share Save
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young Adults Nannette, Gaelle; Bar, Celine; Diene, Gwenaelle; Pienkowski, Catherine; Oliver-Petit, Isabelle; Jouret, Beatrice; Cartault, Audrey; Porquet-Bordes, Valerie; Salles, Jean-Pierre; Grunenwald, Solange; Edouard, Thomas; Molinas, Catherine; Tauber, Maithe Share Save
Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum Koumakis, Eugenie; Cormier-Daire, Valerie; Dellal, Azeddine; Debernardi, Marc; Cortet, Bernard; Debiais, Francoise; Javier, Rose-Marie; Thomas, Thierry; Mehsen-Cetre, Nadia; Cohen-Solal, Martine; Fontanges, Elisabeth; Laroche, Michel; Porquet-Bordes, Valerie; Marcelli, Christian; Benachi, Alexandra; Briot, Karine; Roux, Christian; Cormier, Catherine Share Save
A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta Nijhuis, Wouter; Franken, Anton; Ayers, Kara; Damas, Chantal; Folkestad, Lars; Forlino, Antonella; Fraschini, Paolo; Hill, Claire; Janus, Guus; Kruse, Richard; Wekre, Lena Lande; Michiels, Lieve; Montpetit, Kathleen; Panzeri, Leonardo; Porquet-Bordes, Valerie; Rauch, Frank; Sakkers, Ralph; Salles, Jean-Pierre; Semler, Oliver; Sun, Jony; To, Michael; Tosi, Laura; Yao, Yangyang; Yeung, Eric Hiu Kwong; Zhytnik, Lidiia; Zillikens, Maria Carola; Verhoef, Marjolein Share Save
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Utility of genetic testing for prenatal presentations of hypophosphatasia Sperelakis-Beedham, Brian; Taillandier, Agnes; Domingues, Christelle; Guberto, Mihelaiti; Colin, Estelle; Porquet-Bordes, Valerie; Rothenbuhler, Anya; Salles, Jean-Pierre; Wenkert, Deborah; Zankl, Andreas; Muti, Christine; Bacrot, Severine; Simon-Bouy, Brigitte; Mornet, Etienne Share Save
Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population El Allali, Yasmine; Hermetet, Coralie; Bacchetta, Justine; Amouroux, Cyril; Rothenbuhler, Anya; Porquet-Bordes, Valerie; Champigny, Marie-Alexandrine; Baron, Sabine; Barat, Pascal; Bony-Trifunovic, Helene; Bourdet, Karine; Busiah, Kanetee; Cartigny-Maciejewski, Maryse; Compain, Florence; Coutant, Regis; Amsellem-Jager, Jessica; De Kerdanet, Marc; Magontier, Nathalie; Mignot, Brigitte; Richard, Odile; Rossignol, Sylvie; Soskin, Sylvie; Berot, Aurelie; Naud-Saudreau, Catherine; Salles, Jean-Pierre; Linglart, Agnes; Edouard, Thomas; Lienhardt-Roussie, Anne Share Save
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing Taillandier, Agnes; Domingues, Christelle; De Cazanove, Clemence; Porquet-Bordes, Valerie; Monnot, Sophie; Kiffer-Moreira, Tina; Rothenbuhler, Agnes; Guggenbuhl, Pascal; Cormier, Catherine; Baujat, Genevieve; Debiais, Francoise; Capri, Yline; Cohen-Solal, Martine; Parent, Philippe; Chiesa, Jean; Dieux, Anne; Petit, Florence; Roume, Joelle; Isnard, Monica; Cormier-Daire, Valerie; Linglart, Agnes; Millan, Jose Luis; Salles, Jean-Pierre; Muti, Christine; Simon-Bouy, Brigitte; Mornet, Etienne Share Save
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