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Preview	Issue Date	Title	Author(s)
	2019	Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females	Jackson, M.R.; Loring, K.E.; Homan, C.C.; Thai, H.N.; Määttänen, L.; Arvio, M.; Jarvela, I.; Shaw, M.; Gardner, A.; Gecz, J.; Shoubridge, C.
	2019	A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation	Khayat, W.; Hackett, A.; Shaw, M.; Ilie, A.; Dudding-Byth, T.; Kalscheuer, V.M.; Christie, L.; Corbett, M.A.; Juusola, J.; Friend, K.L.; Kirmse, B.M.; Gecz, J.; Field, M.; Orlowski, J.
	2013	ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity	Hirata, H.; McMichael, G.; Haan, E.; MacLennan, A.; Yap, T.; Nguyen, L.; Shaw, M.; Gecz, J.
	2004	Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia	Shaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.
	2013	Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability	Melko, M.; Nguyen, L.; Shaw, M.; Jolly, L.; Bardoni, B.; Gecz, J.
	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.
	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.
	2006	Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions	Sharma, S.; Ang, S.; Shaw, M.; Mackey, D.; Gecz, J.; McAvoy, J.; Craig, 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.