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  • Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Eggers, S. (Contributor), Sadedin, S. (Contributor), Bouty, A. (Contributor), Riedl, S. (Contributor), Webb, N. (Contributor), Looijenga, L. (Contributor), Grover, S. R. (Contributor), Bhatia, V. (Contributor), Hao, T. K. (Contributor), Koopman, P. (Contributor), Shalhoub, C. (Contributor), thi Diem Chi, N. (Contributor), Lambeth, L. (Contributor), Thompson, E. M. (Contributor), Faradz, S. (Contributor), Hutson, J. (Contributor), Carter, P. (Contributor), Khadilkar, V. (Contributor), Warne, G. (Contributor), Kimber, C. (Contributor), Srinivasan, S. (Contributor), Dũng, V. C. (Contributor), Harley, V. (Contributor), Cools, M. (Contributor), Hofman, P. (Contributor), Titmuss, A. (Contributor), Ewans, L. (Contributor), Tan, T. Y. (Contributor), Pachter, N. (Contributor), Krausz, C. (Contributor), O'Connell, M. (Contributor), Drop, S. (Contributor), Crock, P. (Contributor), Brown, J. (Contributor), Knarston, I. M. (Contributor), Zacharin, M. (Contributor), Robevska, G. (Contributor), Visser, U. (Contributor), Heloury, Y. (Contributor), Choong, C. S. (Contributor), Verge, C. F. (Contributor), King, R. I. (Contributor), Atta, I. (Contributor), Khadilkar, A. (Contributor), Ohnesorg, T. (Contributor), Dawson, A. (Contributor), Smith, J. (Contributor), Oshlack, A. (Contributor), Couper, J. (Contributor), Cowell, C. (Contributor), Mowat, D. (Contributor), Gecz, J. (Contributor), Smith, G. (Contributor), Raza, J. (Contributor), van Ravenswaaij-Arts, C. (Contributor), Bergman, P. (Contributor), Huynh, T. (Contributor), Hunter, M. F. (Contributor), Hewitt, J. (Contributor), McKenzie, F. (Contributor), van den Bergen, J. A. (Contributor), Cameron, F. (Contributor), Leong, G. (Contributor), Juniarto, A. Z. (Contributor), Werther, G. (Contributor), Wheeler, B. J. (Contributor), Lafferty, A. R. (Contributor), MacKenzie, K. (Contributor), Ono, M. (Contributor), Jefferies, C. (Contributor), Baxendale, A. (Contributor), Ayers, K. L. (Creator) & Sinclair, A. H. (Creator), University of Groningen, 14-dec-2016

    Dataset

  • Additional file 2: Table S1. of Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children

    Zwanenburg, R. J. (Contributor), Ruiter, S. A. J. (Contributor), Van Den Heuvel, E. R. (Contributor), Flapper, B. (Contributor) & van Ravenswaaij-Arts, C. (Contributor), University of Groningen, 15-dec-2016

    Dataset

  • Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

    Vlaskamp, D. (Creator), Shaw, B. J. (Creator), Burgess, R. (Creator), Mei, D. (Creator), Montomoli, M. (Creator), Xie, H. (Creator), Myers, C. T. (Creator), Bennett, M. (Creator), XiangWei, W. (Creator), Williams, D. (Creator), Maas, S. M. (Creator), Brooks, A. S. (Creator), Mancini, G. (Creator), van de Laar, I. M. B. H. (Creator), Hagen, J. M. (Creator), Ware, T. (Creator), Webster, R. (Creator), MALONE, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), van Ravenswaaij-Arts, C. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator) & Scheffer, I. E. (Creator), University of Groningen, 18-dec-2018

    Dataset

  • Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

    Vlaskamp, D. (Contributor), Shaw, B. J. (Contributor), Burgess, R. (Contributor), Maas, S. M. (Contributor), Hildebrand, M. S. (Contributor), Sicca, F. (Contributor), Ware, T. L. (Contributor), Xie, H. (Contributor), Xiangwei, W. (Contributor), Williams, D. (Contributor), Mancini, G. M. S. (Contributor), Montomoli, M. (Contributor), van Ravenswaaij-Arts, C. (Contributor), Webster, R. I. (Contributor), Kalnins, R. M. (Contributor), Van De Laar, I. M. B. H. (Contributor), Malone, S. (Contributor), Berkovic, S. F. (Contributor), Korenke, G. C. (Contributor), Bennett, M. F. (Contributor), Brooks, A. S. (Contributor), Mei, D. (Contributor), Jiang, Y. (Contributor), Van Hagen, J. M. (Contributor), Myers, C. T. (Contributor), Mefford, H. C. (Contributor), Guerrini, R. (Contributor) & Scheffer, I. E. (Contributor), University of Groningen, 4-sep-2019

    Dataset