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Results 31-40 of 44 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2009The genetic landscape of intellectual disability arising from chromosome XGecz, J.; Shoubridge, C.; Corbett, M.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2003Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationKalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al.
2005Early onset seizures and Rett-like features associated with mutations in CDKL5Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2006ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationLugtenberg, D.; Yntema, H.; Banning, M.; Oudakker, A.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; van Reeuwijk, J.; Nabuurs, S.; de Vries, B.; Hamel, B.; de Brouwer, A.; van Bokhoven, H.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2003Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndromeBaumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.