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Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; ... (2018). Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. The EMBO Journal, 37(23) EMBO Press 10.15252/embj.2018100540
Tassano, Elisa; Jagannathan, Vidhya; Drögemüller, Cord; Leoni, Massimiliano; Hytönen, Marjo K; Severino, Mariasavina; Gimelli, Stefania; Cuoco, Cristina; Rocco, Maja Di; Sanio, Kirsi; Groves, Andrew K; Leeb, Tosso; Gimelli, Giorgio (2015). Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. American journal of medical genetics. Part A, 167(3), pp. 537-544. Wiley-Liss 10.1002/ajmg.a.36895