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Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory Passemard, Sandrine; Verloes, Alain; Billette de Villemeur, Thierry; Boespflug-Tanguy, Odile; ... Schaer, Marie 2016
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; ... Blau, Nenad 2013
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PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; ... Roze, Emmanuel 2012