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Bosemani, Thangamadhan; Steinlin, Maja; Toelle, Sandra P; Beck, Jürgen; Boltshauser, Eugen; Huisman, Thierry A G M; Poretti, Andrea (2016). Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Child's nervous system, 32(5), pp. 865-871. Springer 10.1007/s00381-015-2977-y
Romani, Marta; Mancini, Francesca; Micalizzi, Alessia; Poretti, Andrea; Miccinilli, Elide; Accorsi, Patrizia; Avola, Emanuela; Bertini, Enrico; Borgatti, Renato; Romaniello, Romina; Ceylaner, Serdar; Coppola, Giangennaro; D'Arrigo, Stefano; Giordano, Lucio; Janecke, Andreas R; Lituania, Mario; Ludwig, Kathrin; Martorell, Loreto; Mazza, Tommaso; Odent, Sylvie; ... (2015). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human genetics, 134(1), pp. 123-126. Springer 10.1007/s00439-014-1508-3
Poretti, Andrea; Christen, Hans-Jürgen; Elton, Lindsay E; Baumgartner, Manuela; Korenke, Georg Christoph; Sukhudyan, Biayna; Hethey, Sven; Cross, Elizabeth; Steinlin, Maja; Boltshauser, Eugen (2014). Horizontal head titubation in infants with Joubert syndrome: a new finding. Developmental medicine and child neurology, 56(10), pp. 1016-1020. Blackwell 10.1111/dmcn.12489
Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: Significance and Pathogenic Considerations. Cerebellum, 11(4), pp. 1026-36. New York, N.Y.: Springer 10.1007/s12311-012-0379-1
