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Fuchs, Oliver; Pfarr, Nicole; Pohlenz, Joachim; Schmidt, Heinrich (2009). Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Developmental medicine and child neurology, 51(3), pp. 240-4. Oxford: Blackwell 10.1111/j.1469-8749.2008.03125.x
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
