1. Adelaide Research & Scholarship

Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 21-30 of 137 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
1998Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1BWallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
2014Aberrant GDF9 expression and activation are associated with common human ovarian disordersSimpson, C.; Robertson, D.; Al-Musawi, S.; Heath, D.; McNatty, K.; Ritter, L.; Mottershead, D.; Gilchrist, R.; Harrison, C.; Stanton, P.
2015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresYamamoto, T.; Shimojima, K.; Sangu, N.; Komoike, Y.; Ishii, A.; Abe, S.; Yamashita, S.; Imai, K.; Kubota, T.; Fukasawa, T.; Okanishi, T.; Enoki, H.; Tanabe, T.; Saito, A.; Furukawa, T.; Shimizu, T.; Milligan, C.; Petrou, S.; Heron, S.; Dibbens, L.; et al.; Ishii, R.
2015p84 forms a negative regulatory complex with p110γ to control PI3Kγ signalling during cell migrationTurvey, M.; Klingler-Hoffmann, M.; Hoffmann, P.; McColl, S.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2015Ancient transposable elements transformed the uterine regulatory landscape and transcriptome during the evolution of mammalian pregnancyLynch, V.; Nnamani, M.; Kapusta, A.; Brayer, K.; Plaza, S.; Mazur, E.; Emera, D.; Sheikh, S.; Grützner, F.; Bauersachs, S.; Graf, A.; Young, S.; Lieb, J.; DeMayo, F.; Feschotte, C.; Wagner, G.
2009Inhibition of CCR6 Function Reduces the Severity of Experimental Autoimmune Encephalomyelitis via Effects on the Priming Phase of the Immune ResponseListon, A.; Kohler, R.; Townley, S.; Haylock-Jacobs, S.; Comerford, I.; Caon, A.; Webster, J.; Harrison, J.; Swann, J.; Clark-Lewis, I.; Korner, H.; McColl, S.
2005Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.

Discover