1. Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. Issue 4 (April 2018) Authors: Cassatella, Daniele; Howard, Sasha R; Acierno, James S; Xu, Cheng; Papadakis, Georgios E; Santoni, Federico A; Dwyer, Andrew A; Santini, Sara; Sykiotis, Gerasimos P; Chambion, Caroline; Meylan, Jenny; Marino, Laura; Favre, Lucie; Li, Jiankang; Liu, Xuanzhu; Zhang, Jianguo; Bouloux, Pierre-Marc; G... Journal: European journal of endocrinology Issue: Volume 178:Issue 4(2018) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. (August 2018) Authors: Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück, Christa; Feller, Katrin; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew; Marino, Laura; Fav... Journal: Genetics in medicine Issue: Volume 20:Number 8(2018) Page Start: 872 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. Issue 5 (November 2019) Authors: Flück, Christa; Nordenström, Anna; Ahmed, S Faisal; Ali, Salma R; Berra, Marta; Hall, Joanne; Köhler, Birgit; Pasterski, Vickie; Robeva, Ralitsa; Schweizer, Katinka; Springer, Alexander; Westerveld, Puck; Hiort, Olaf; Cools, Martine Journal: European journal of endocrinology Issue: Volume 181:Issue 5(2019) Page Start: 545 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗