Adelaide Research & Scholarship: Search

Search

Results 1-10 of 10 (Search time: 0.002 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2003	Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX	Stromme, P.; Bakke, S.; Dahl, A.; Gecz, J.
	2003	Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency	Birrell, G.; Lampe, A.; Richmond, S.; Bruce, S.; Gecz, J.; Lower, K.; Wright, M.
	2003	Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not	Gecz, J.; Shaw, M.; Bellon, J.; de Barros Lopes, M.
	2003	Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4	Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
	2003	Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation	Kalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
	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.
	2003	Nonsyndromic x-linked mental retardation: where are the missing mutations?	Ropers, H.; Hoeltzenbein, M.; Kalscheuer, V.; Yntema, H.; Hamel, B.; Fryns, J.; Chelly, J.; Partington, M.; Gecz, J.; Moraine, C.
	2003	Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)	Savarirayan, R.; Thompson, E.; Gecz, J.
	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.
	2003	Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome	Baumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.