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Preview	Issue Date	Title	Author(s)
	2003	Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation	Burdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
	2003	Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation	Kalscheuer, 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.
	2023	Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity	Kurolap, A.; Kreuder, F.; Gonzaga-Jauregui, C.; Duvdevani, M.P.; Harel, T.; Tammer, L.; Xin, B.; Bakhtiari, S.; Rice, J.; van Eyk, C.; Gecz, J.; Mah, J.K.; Atkinson, D.; Cope, H.; Sullivan, J.A.; Douek, A.M.; Colquhoun, D.; Henry, J.; Wlodkowic, D.; Parman, Y.; et al.; 55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online)