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Results 31-40 of 51 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2016A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-Cell mitochondrial dysfunction in type 2 diabetesPeiris, H.; Duffield, M.D.; Fadista, J.; Jessup, C.F.; Kashmir, V.; Genders, A.J.; McGee, S.L.; Martin, A.M.; Saiedi, M.; Morton, N.; Carter, R.; Cousin, M.A.; Kokotos, A.C.; Oskolkov, N.; Volkov, P.; Hough, T.A.; Fisher, E.M.C.; Tybulewicz, V.L.J.; Busciglio, J.; Coskun, P.E.; et al.; Scott, H.S.
2015Progesterone receptor modulates ERα action in breast cancerMohammed, H.; Russell, I.; Stark, R.; Rueda, O.; Hickey, T.; Tarulli, G.; Serandour, A.; Birrell, S.; Bruna, A.; Saadi, A.; Menon, S.; Hadfield, J.; Pugh, M.; Raj, G.; Brown, G.; D'Santos, C.; Robinson, J.; Silva, G.; Launchbury, R.; Perou, C.; et al.
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.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, 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.
2010Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidanceTischfield, 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.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, 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.
2012The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinomaPerez-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.
2012Rac2-MRC-cIII-generated ROS cause genomic instability in chronic myeloid leukemia stem cells and primitive progenitorsNieborowska-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.
2012Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculatureKazenwadel, J.; Secker, G.; Liu, Y.; Rosenfeld, J.; Wildin, R.; Cuellar-Rodriguez, J.; Hsu, A.; Dyack, S.; Fernandez, C.; Chong, C.; Babic, M.; Bardy, P.; Shimamura, A.; Zhang, M.; Walsh, T.; Holland, S.; Hickstein, D.; Horwitz, M.; Hahn, C.; Scott, H.; et al.

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