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Maquet, Emilie; Costagliola, Sabine; Parma, Jasmine; Christophe-Hobertus, Christiane; Oligny, Luc L; Fournet, Jean-Christophe; Robitaille, Yves; Vuissoz, Jean-Marc; Payot, Antoine; Laberge, Sophie; Vassart, Gilbert; Van Vliet, Guy; Deladoëy, Johnny (2009). Lethal respiratory failure and mild primary hypothyroidism in a term girl with a de novo heterozygous mutation in the TITF1/NKX2.1 gene. Journal of clinical endocrinology and metabolism, 94(1), pp. 197-203. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2008-1402
Deladoëy, Johnny; Pfarr, Nicole; Vuissoz, Jean-Marc; Parma, Jasmine; Vassart, Gilbert; Biesterfeld, Stefan; Pohlenz, Joachim; Van Vliet, Guy (2008). Pseudodominant Inheritance of Goitrous Congenital Hypothyroidism Caused by TPO Mutations: Molecular and in Silico Studies. Journal of clinical endocrinology and metabolism, 93(2), pp. 627-33. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-2276
Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838
