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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2007The spectrum of SCNIA-related infantile epileptic encephalopathiesHarkin, L.; McMahon, J.; Iona, X.; Dibbens, L.; Pelekanos, J.; Zuberi, S.; Sadleir, L.; Andermann, E.; Gill, D.; Farrell, K.; Connolly, M.; Stanley, T.; Harbord, M.; Andermann, F.; Wang, J.; Batish, S.; Jones, J.; Seltzer, W.; Gardner, A.; Sutherland, G.; et al.
2004Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear proteinSarafidou, T.; Kahl, C.; Martinez-Garay, I.; Mangelsdorf, M.; Gesk, S.; Baker, E.; Kokkinaki, M.; Talley, P.; Maltby, E.; French, L.; Harder, L.; Hinzmann, B.; Nobile, C.; Richkind, K.; Finnis, M.; Deloukas, P.; Sutherland, G.; Kutsche, K.; Moschonas, N.; Siebert, R.; et al.
2010LPIN1 gene mutations: A major cause of severe rhabdomyolysis in early childhoodMichot, C.; Hubert, L.; Brivet, M.; De Meirleir, L.; Valayannopoulos, V.; Muller-Felber, W.; Venkateswaran, R.; Ogier, H.; Desguerre, I.; Altuzarra, C.; Thompson, E.; Smitka, M.; Huebner, A.; Husson, M.; Horvath, R.; Chinnery, P.; Vaz, F.; Munnich, A.; Elpeleg, O.; Delahodde, A.; et al.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
2009Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysisWalsh, M.; Buchanan, D.; Walters, R.; Roberts, A.; Arnold, S.; McKeone, D.; Clendenning, M.; Ruszkiewicz, A.; Jenkins, M.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Young, G.; Macrae, F.; Drini, M.; Woods, M.; Parry, S.; Jass, J.; et al.
2011Linkage to chromosome 2q32.2-q33.3 in familial serrated neoplasia (Jass syndrome)Roberts, A.; Nancarrow, D.; Clendenning, M.; Buchanan, D.; Jenkins, M.; Duggan, D.; Taverna, D.; McKeone, D.; Walters, R.; Walsh, M.; Young, B.; Jass, J.; Rosty, C.; Gattas, M.; Pelzer, E.; Hopper, J.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; et al.
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2004Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months oldBelshe, R.; Newman, F.; Tsai, T.; Karron, R.; Reisinger, K.; Roberton, D.; Marshall, H.; Schwartz, R.; King, J.; Henderson, F.; Rodriguez, W.; Severs, J.; Wright, P.; Keyserling, H.; Weinberg, G.; Bromberg, K.; Loh, R.; Sly, P.; McIntyre, P.; Ziegler, J.; et al.