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Martin Grangeio, Monica; Lindberg, Iris; Solorzano-Vargas, R. Sergio; Wang, Jiafang; Avitzur, Yaron; Bandsma, Robert; Sokollik, Christiane; Lawrence, Sarah; Pickett, Lindsay A.; Chen, Zijun; Egritas, Odul; Dalgic, Buket; Albornoz, Valeria; de Ridder, Lissy; Hulst, Jessie; Gok, Faysal; Aydoğan, Ayşen; Al-Hussaini, Abdulrahman; Gok, Deniz Engin; Yourshaw, Michael; ... (2013). Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. Gastroenterology, 145(1), pp. 138-148. Elsevier 10.1053/j.gastro.2013.03.048
Rudnik-Schöneborn, Sabine; Senderek, Jan; Jen, Joanna C; Houge, Gunnar; Seeman, Pavel; Puchmajerová, Alena; Graul-Neumann, Luitgard; Seidel, Ulrich; Korinthenberg, Rudolf; Kirschner, Janbernd; Seeger, Jürgen; Ryan, Monique M; Muntoni, Francesco; Steinlin, Maja; Sztriha, Laszlo; Colomer, Jaume; Hübner, Christoph; Brockmann, Knut; Van Maldergem, Lionel; Schiff, Manuel; ... (2013). Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology, 80(5), pp. 438-46. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1212/WNL.0b013e31827f0f66
