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Results 31-40 of 94 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Yunis-Varón Syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseCampeau, P.; Lenk, G.; Lu, J.; Bae, Y.; Burrage, L.; Turnpenny, P.; Corona-Rivera, J.; Morandi, L.; Mora, M.; Reutter, H.; Vulto-van Silfhout, A.; Faivre, L.; Haan, E.; Gibbs, R.; Meisler, M.; Lee, B.
2008PU.1 and NFATc1 mediate osteoclastic induction of the mouse β₃ integrin promoterCrotti, T.; Sharma, S.; Fleming, J.; Flannery, M.; Ostrowski, M.; Goldring, S.; McHugh, K.
2003Nova regulates GABA(A) receptor gamma 2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancerDredge, B.; Darnell, R.
2014Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human diseaseNewman, M.; Wilson, L.; Verdile, G.; Lim, A.; Khan, I.; Nik, S.; Pursglove, S.; Chapman, G.; Martins, R.; Lardelli, M.
2006Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationHagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Van Zutven, L.; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.; Chelly, J.; van Bokhoven, H.; Gecz, J.; Dollfus, H.; Ropers, H.; Schwartz, C.; de Cassia Stocco dos Santos, R.; Kalscheuer, V.; Hanauer, A.
2000Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mappingCostanzi, E.; Beccari, T.; Stinchi, S.; Bibi, L.; Hopwood, J.; Orlacchio, A.
1995Expression of bacterial cysteine biosynthesis genes in transgenic mice and sheep: Toward a new in vivo amino acid biosynthesis pathway and improved wool growthBawden, C.; Sivaprasad, A.; Verma, P.; Walker, S.; Rogers, G.
2001Gene structure, alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative BimBouillet, P.; Zhang, L.; Huang, D.; Webb, G.; Bottema, C.; Shore, P.; Eyre, H.; Sutherland, G.; Adams, J.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, 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.
2011Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKhan, K.; Rudkin, A.; Parry, D.; Burdon, K.; McKibbin, M.; Logan, C.; Abdelhamed, Z.; Muecke, J.; Fernandez-Fuentes, N.; Laurie, K.; Shires, M.; Fogarty, R.; Carr, I.; Poulter, J.; Morgan, J.; Mohamed, M.; Jafri, H.; Raashid, Y.; Meng, N.; Piseth, H.; et al.

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