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scopus: 8543818100

Wit, M.C.Y. de

(Marie Claire de Wit)


patient mutation syndrome brain genet heterotopia j med genet development periventricular cause abnormality analysis lissencephaly polymicrogyria cortex defect protein phenotype dobyns wb neuron epilepsy malformations deletion brain mri figure disorder family microcephaly chapter migration chromosome pattern month periventricular heterotopia function seizure deficiency study filamin feature result perisylvian neurol anomaly gyral pattern dobyn retardation mancini ier 3ip malformation diagnosis perisylvian polymicrogyria children image table sequence disease guerrini r digit report ventricle megalencephaly dysplasia erasmus mc apoptosi classification hydrocephalu pachygyria right control adams-oliver syndrome lequin mh sotos syndrome matter erasmu gyral arfgef number microdeletion wit mcy




10 Most Recent Publications

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
Lumbar puncture in paediatric stroke (Article)
Neuteboom, R.F. Leguin, M. Wit, M.C.Y. de Catsman-Berrevoets, C.E.
2011-08-27
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
Long-term follow-up of type 1 lissencephaly: Survival is related to neuroimaging abnormalities (Article)
Wit, M.C.Y. de Rijk-Van Andel, J. de Halley, D.J.J. Poddighe, P. Arts, W.F.M. Coo, I.F.M. de Mancini, G.M.S.
2011-05-01
Lung disease in FLNA mutation: Confirmatory report (Article)
Wit, M.C.Y. de Tiddens, H.A.W.M. Coo, I.F.M. de Mancini, G.M.S.
2011-05-01
Malformations of the Human Cerebral Cortex: patetrns and causes (Doctoral Thesis)
Wit, M.C.Y. de
2010-09-10
Absence epilepsy and periventricular nodular heterotopia (Article)
Wit, M.C.Y. de Schippers, H.M. Coo, I.F.M. de Arts, W.F.M. Lequin, M.H. Brooks, A.S. Visser, G.H. Mancini, G.M.S.
2010-09-01
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
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
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