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    Andrea Poretti, Eugen Boltshauser, Dan Doherty, Cerebellar hypoplasia: Differential diagnosis and diagnostic approach, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2014, 166, 2
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    Andrea Poretti, Hans-Jürgen Christen, Lindsay E Elton, Manuela Baumgartner, Georg Christoph Korenke, Biayna Sukhudyan, Sven Hethey, Elizabeth Cross, Maja Steinlin, Eugen Boltshauser, Horizontal head titubation in infants with Joubert syndrome: a new finding, Developmental Medicine & Child Neurology, 2014, 56, 10