J Intellect Disabil Res Mulder, P A, van Balkom, I D C, Landlust, A M, Priolo, M, Menke, L A, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Kooblall, K, Lapunzina, P, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Schanze, D, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Tatton-Brown, K, Tenorio, J, Thakker, R V, Valdez, R M, van Haeringen, A, van Hagen, J M, Zenker, M, Zollino, M, Dunn, W W, Piening, S & Hennekam, R C 2020, ' Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes ', Journal of Intellectual Disability Research, vol. 64, no. 12, pp. 956-969 . https://doi.org/10.1111/jir.12787 Journal of Intellectual Disability Research, 64(12), 956-969. Wiley-Blackwell Journal of Intellectual Disability Research, 64(12), 956-969. WILEY Journal of intellectual disability research, 64(12), 956-969. Wiley-Blackwell
Willemsen, M H, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, W M, Yntema, H G, van Hagen, J M, Nieuwint, A W M, Morrison, N, Keijzers-Vloet, S T M, Hoischen, A, Brunner, H G, Tolmie, J & Kleefstra, T 2011, ' Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions ', Clinical Genetics, vol. 80, no. 1, pp. 31-38 . https://doi.org/10.1111/j.1399-0004.2010.01607.x Clinical Genetics, 80(1), 31-38. Wiley-Blackwell Clinical Genetics, 80, 1, pp. 31-8 Clinical Genetics, 80, 31-8
Neurobiology of Disease, 26(1), 112-124. Academic Press Neurobiology of disease Neurobiology of Disease, Vol 26, Iss 1, Pp 112-124 (2007) van Hagen, J M, van der Geest, J N, van der Giessen, R S, Lagers-van Haselen, G C, Eussen, H J F M M, Gille, J J P, Govaerts, L C P, Wouters, C H, de Coo, I F M, Hoogenraad, C C, Koekkoek, S K E, Frens, M A, van Camp, N, van der Linden, A, Jansweijer, M C E, Thorgeirsson, S S & De Zeeuw, C I 2007, ' Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome ', Neurobiology of Disease, vol. 26, no. 1, pp. 112-24 . https://doi.org/10.1016/j.nbd.2006.12.009 Neurobiology of Disease, 26(1), 112-24. Academic Press Inc.
de Ru, M H, Gille, J J P, Nieuwint, A W M, Bijlsma, J B, van der Blij, J F & van Hagen, J M 2005, ' Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay : clinical report and review of the literature ', American Journal of Medical Genetics Part A, vol. 137, no. 1, pp. 81-7 . https://doi.org/10.1002/ajmg.a.30786
Molecular syndromology, 4(4), 173-178. S. Karger AG Revencu, N, Boon, L M, Dompmartin, A, Rieu, P, Busch, W L, Dubois, J, Forzano, F, van Hagen, J M, Halbach, S, Kuechler, A, Lachmeijer, A M A, Lahde, J, Russell, L, Simola, K O J, Mulliken, J B & Vikkula, M 2013, ' Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth ', Molecular syndromology, vol. 4, no. 4, pp. 173-178 . https://doi.org/10.1159/000349919