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Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of inherited metabolic disease, 35(1), pp. 133-40. Lancaster, UK: Springer Netherlands 10.1007/s10545-011-9357-x
Simonetti, Giacomo D; Casaulta, Carmen; Vuissoz, Jean-Marc; Bianchetti, Mario G; Nuoffer, Jean-Marc (2009). Recurrent unexplained episodes of facial cyanosis and shortness of breath in Hunter disease. Journal of pediatrics, 155(1), 144, 144.e1. New York, N.Y.: Elsevier 10.1016/j.jpeds.2009.01.037
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
Schroeder, Verena; Vuissoz, Jean-Marc; Caflisch, Amedeo; Kohler, Hans P (2007). Factor XIII activation peptide is released into plasma upon cleavage by thrombin and shows a different structure compared to its bound form. Thrombosis and haemostasis, 97(6), pp. 890-898. Stuttgart: Schattauer 10.1160/TH06-08-0458
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
