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10 Most Recent Publications
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RTTN mutations link primary cilia function to organization of the human cerebral cortex
(Article)
Kia, S.K. Verbeek, E. Brehm, A. Wit, M.C.Y. de Oegema, R. Dobyns, W.B. Verheijen, F.W. Mancini, G.M.S. Engelen, E. Schot, R. Poot, R. Coo, I.F.M. de Leguin, M. Poulton, C.J. Pourfarzad, F. Grosveld, F.G. |
2012-09-07
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Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors
(Article)
Poulton, C.J. Schot, R. Kia, S.K. Jones, M. Verheijen, F.W. Venselaar, H. Wit, M.C.Y. de Graaff, E. de Bertoli Avella, A.M. Mancini, G.M.S. |
2011-08-12
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Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome
(Article)
Visser, W.E. Swagemakers, S.M.A. Özgür, Z. Schot, R. Verheijen, F.W. IJcken, W.F.J. van Spek, P.J. van der |
2010-08-12
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KBG syndrome associated with periventricular nodular heterotopia
(Article)
Oegema, R. Schot, R. Wit, M.C.Y. de Leguin, M. Oostenbrink, R. Coo, I.F.M. de Mancini, G.M.S. |
2010-07-01
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Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus
(Article)
Verkerk, J.H.M. Schot, R. Wit, M.C.Y. de Wafelman, L.S. Garavelli, L. Dobyns, W.B. Spek, P.J. van der Klein, J.E.M.M. de Mancini, G.M.S. Waterschoot, L. van Douben, H. Poddighe, P. Leguin, M. Vries, L.S. de Terhal, P. Hahnemann, J.M.D. Coo, I.F.M. de |
2010-06-01
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Periventricular nodular heterotopia and distal limb deficiency: A recurrent association
(Article)
Wit, M.C.Y. de Coo, I.F.M. de Schot, R. Hoogeboom, A.J.M. Leguin, M. Verkerk, J.H.M. Mancini, G.M.S. |
2010-04-01
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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy
(Article)
Verkerk, J.H.M. Schot, R. Hirst, J. Wessels, M.W. Catsman-Berrevoets, C.E. Verheijen, F.W. Graaff, E. de Coo, I.F.M. de Kros, J.M. Willemsen, R. Willems, P.J. Spek, P.J. van der Dumee, B. Mancini, G.M.S. Schellekens, K. Swagemakers, S.M.A. Bertoli Avella, A.M. Leguin, M. Dudink, J. Govaert, P. Zwol, A.L. van |
2009-07-10
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Expression of smooth muscle and extracellular matrix proteins in relation to airway function in asthma
(Article)
Slats, A.M. Janssen, K. Sterk, P.J. Schadewijk, A. van Plas, D.T. van der Schot, R. Aardweg, J.G. van den Jongste, J.C. de Hiemstra, P.S. Mauad, T. Rabe, K.F. |
2008-05-01
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Cortical brain malformations: Effect of clinical, neuroradiological, and modern genetic classification
(Article)
Wit, M.C.Y. de Leguin, M. Coo, I.F.M. de Brusse, E. Halley, D. Graaf, R. van de Schot, R. Verheijen, F.W. Mancini, G.M.S. |
2008-03-01
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Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): Report of a new case
(Article)
Garavelli, L. Guareschi, E. Frigieri, G. Zonari, P. Albertini, E. Della Giustina, E. Amarri, S. Banchini, G. Dobyns, W.B. Neri, G. Errico, S. Simoni, A. Bergonzini, P. Zollino, M. Gurrieri, F. Mancini, G.M.S. Schot, R. Spek, P.J. van der |
2007-08-01
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