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Preview	Issue Date	Title	Author(s)
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, 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.
	2011	Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma	Khan, 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.
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly	Giannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
	2010	Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination	Pearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
	2010	Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance	Tischfield, M.; Baris, H.; Wu, C.; Rudolph, G.; van Maldergem, L.; He, W.; Chan, W.; Andrews, C.; Demer, J.; Robertson, R.; Mackey, D.; Ruddle, J.; Bird, T.; Gottlob, I.; Pieh, C.; Traboulsi, E.; Pomeroy, S.; Hunter, D.; Soul, J.; Newlin, A.; et al.
	2011	Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1	Burdon, K.; MacGregor, S.; Hewitt, A.; Sharma, S.; Chidlow, G.; Mills, R.; Danoy, P.; Casson, R.; Viswanathan, A.; Liu, J.; Landers, J.; Henders, A.; Wood, J.; Souzeau, E.; Crawford, A.; Leo, P.; Wang, J.; Rochtchina, E.; Nyholt, D.; Martin, N.; et al.
	2011	Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia	Hahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al.
	2013	Mutations in DEPDC5 cause familial focal epilepsy with variable foci	Dibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
	2012	The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma	Perez-Mancera, P.; Rust, A.; van der Weyden, L.; Kristiansen, G.; Li, A.; Sarver, A.; Silverstein, K.; Grützmann, R.; Aust, D.; Rümmele, P.; Knösel, T.; Herd, C.; Stemple, D.; Kettleborough, R.; Brosnan, J.; Li, A.; Morgan, R.; Knight, S.; Yu, J.; Stegeman, S.; et al.
	2012	Rac2-MRC-cIII-generated ROS cause genomic instability in chronic myeloid leukemia stem cells and primitive progenitors	Nieborowska-Skorska, M.; Kopinski, P.; Ray, R.; Hoser, G.; Ngaba, D.; Flis, S.; Cramer, K.; Reddy, M.; Koptyra, M.; Penserga, T.; Glodkowska-Mrowka, E.; Bolton, E.; Holyoake, T.; Eaves, C.; Cerny-Reiterer, S.; Valent, P.; Hochhaus, A.; Hughes, T.; Van der Kuip, H.; Sattler, M.; et al.