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Results 1-10 of 19 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2001The protein tyrosine phosphatase TCPTP suppresses the tumorigenicity of glioblastoma cells expressing a mutant epidermal growth factor receptorKlingler-Hoffmann, M.; Fodero-Tavoletti, M.; Mishima, K.; Narita, Y.; Cavenee, W.; Furnari, F.; Huang, H.; Tiganis, T.
2012CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesisPan, W.; Pham, V.; Stratman, A.; Castranova, D.; Kamei, M.; Kidd, K.; Lo, B.; Shaw, K.; Torres-Vazquez, J.; Mikelis, C.; Gutkind, J.; Davis, G.; Weinstein, B.
2013The genomic landscape of hypodiploid acute lymphoblastic leukemiaTo, L.
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.
2004Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IVWard, T.; Valberg, S.; Adelson, D.; Abbey, C.; Binns, M.; Mickelson, 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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