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Preview	Issue Date	Title	Author(s)
	2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis	Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van 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.
	2016	Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders	Moey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
	2015	Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal	Haines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
	2010	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay	Haan, E.; Gecz, J.
	2016	Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?	Rigbye, K.; van Hasselt, P.; Burgess, R.; Damiano, J.; Mullen, S.; Petrovski, S.; Puranam, R.; van Gassen, K.; Gecz, J.; Scheffer, I.; McNamara, J.; Berkovic, S.; Hildebrand, M.
	2016	Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy	Corbett, 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.
	2019	A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay	Mucha, B.E.; Banka, S.; Ajeawung, N.F.; Molidperee, S.; Chen, G.G.; Koenig, M.K.; Adejumo, R.B.; Till, M.; Harbord, M.; Perrier, R.; Lemyre, E.; Boucher, R.M.; Skotko, B.G.; Waxler, J.L.; Thomas, M.A.; Hodge, J.C.; Gecz, J.; Nicholl, J.; McGregor, L.; Linden, T.; et al.