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Developmental Medicine and Child Neurology|March 18, 2011
Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalitiesMarie-Claire Y de Wit, Jojanneke de Rijk-van Andel, Dicky J Halley, et al.
American Journal of Medical Genetics. Part A|November 19, 2013
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosisEllen van Binsbergen, Richard J Ellis, Nadia Abdelmalik, et al.
European Journal of Cancer Care|December 30, 2016
Strategies for delivery of faecal occult blood test kits and participation to colorectal cancer screening in the Emilia-Romagna Region of ItalyS Mancini, A Ravaioli, F Falcini, et al.
Molecular Genetics & Genomic Medicine|March 25, 2018
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 geneVyne van der Schoot, Sonja de Munnik, Hanka Venselaar, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 geneJan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
Neurogenetics|September 15, 2006
Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitusM C Y de Wit, I F M de Coo, C Julier, et al.
American Journal of Human Genetics|August 13, 2011
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsCathryn J Poulton, Rachel Schot, Sima Kheradmand Kia, et al.
Brain : a Journal of Neurology|October 1, 2010
Magnetic resonance imaging pattern recognition in hypomyelinating disordersMarjan E Steenweg, Adeline Vanderver, Susan Blaser, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|September 30, 2021
A novel family illustrating the mild phenotypic spectrum of TUBB2B variantsJordy Dekker, Karin E M Diderich, Rachel Schot, et al.
Archives of Neurology|March 12, 2008
Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classificationMarie Claire Yvette de Wit, Maarten H Lequin, Ireneaus F M de Coo, et al.
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