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Number of items: 8.

Lang-Muritano, Mariarosaria; Sproll, Patrick; Wyss, Sascha; Kolly, Anne; Hürlimann, Renate; Konrad, Daniel; Biason-Lauber, Anna (2018). Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2). Journal of Clinical Endocrinology & Metabolism, 103(10):3748-3756.

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; Geyter, Christian De; Paepe, Anne De; Dhillo, Waljit S; Ferrara, Jean-Marc; Hauschild, Michael; Lang-Muritano, Mariarosaria; Lemke, Johannes R; Flück, Christa; Nemeth, Attila; Phan-Hug, Franziska; Pignatelli, Duarte; Popovic, Vera; Pekic, Sandra; et al; Konrad, Daniel; et al (2018). Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European Journal of Endocrinology, 178(4):377-388.

Bouilly, Justine; Messina, Andrea; Papadakis, Georgios; Cassatella, Daniele; Xu, Cheng; Acierno, James S; Tata, Brooke; Sykiotis, Gerasimos; Santini, Sara; Sidis, Yisrael; Elowe-Gruau, Eglantine; Phan-Hug, Franziska; Hauschild, Michael; Bouloux, Pierre-Marc; Quinton, Richard; Lang-Muritano, Mariarosaria; Favre, Lucie; Marino, Laura; Giacobini, Paolo; Dwyer, Andrew A; Niederländer, Nicolas J; Pitteloud, Nelly (2018). DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development. Human Molecular Genetics, 27(2):359-372.

Xu, C; Lang-Muritano, Mariarosaria; Phan-Hug, F; Dwyer, A A; Sykiotis, G P; Cassatella, D; Acierno, J; Mohammadi, M; Pitteloud, N (2017). Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism. Clinical Genetics, 92(2):213-216.

Lang-Muritano, Mariarosaria; Gerster, Karine; Sluka, Susanna; Konrad, Daniel (2017). Two siblings with the same severe form of 21-hydroxylase deficiency but different growth and menstrual cycle patterns. Frontiers in Pediatrics, 5:35.

Ruecker, Beate; Lang-Muritano, Mariarosaria; Spanaus, Katharina; Welzel, Maik; l'Allemand, Dagmar; Phan-Hug, Franziska; Katschnig, Claudia; Konrad, Daniel; Holterhus, Paul-Martin; Schoenle, Eugen J (2015). The aldosterone/renin ratio as a diagnostic tool for the diagnosis of primary hypoaldosteronism in newborns and infants. Hormone Research in Paediatrics, 84(1):43-48.

Schmid, Silvia; Lang-Muritano, Mariarosaria; Meier, Urs; De Peron, Riccardo; Konrad, Daniel; Schoenle, Eugen (2013). Transient severe non-proliferative retinopathy in an adolescent with type 1 diabetes and chronic myeloid leukemia. Pediatric Diabetes, 14(3):227-279.

Gianetti, Elena; Hall, Janet E; Au, Margaret G; Kaiser, Ursula B; Quinton, Richard; Stewart, Jane A; Metzger, Daniel L; Pitteloud, Nelly; Mericq, Veronica; Merino, Paulina M; Levitsky, Lynne L; Izatt, Louise; Lang-Muritano, Mariarosaria; Fujimoto, Victor Y; Dluhy, Robert G; Chase, Matthew L; Crowley, William F; Plummer, Lacey; Seminara, Stephanie B (2012). When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). Journal of Clinical Endocrinology & Metabolism, 97(9):E1798-E1807.

This list was generated on Sun Mar 24 00:22:41 2019 CET.