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Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 01/2017, Volume 59, Issue 1, pp. 57 - 64
Journal Article
by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
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Journal Article
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Human Mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 5, pp. E1319 - E1331
Journal Article
Human Mutation, ISSN 1059-7794, 2010, Volume 31, Issue 4, pp. 380 - 390
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Journal Article