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PreviewIssue DateTitleAuthor(s)
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2003X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
2016Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyCorbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.