Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.


Results 21-30 of 34 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2007An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationUpadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.
2004Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, 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.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2008Pulmonary-vein isolation for atrial fibrillation in patients with heart failureKhan, M.; Jais, P.; Cummings, J.; Di Biase, L.; Sanders, P.; Martin, D.; Kautzner, J.; Hao, S.; Themistoclakis, S.; Fanelli, R.; Potenza, D.; Massaro, R.; Wazni, O.; Schweikert, R.; Saliba, W.; Wang, P.; Al-Ahmad, A.; Beheiry, S.; Santarelli, P.; Starling, R.; et al.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2009Rosuvastatin and Cardiovascular Events in Patients Undergoing HemodialysisFellstrom, B.; Jardine, A.; Schmeider, R.; Holdaas, H.; Bannister, K.; Beutler, J.; Chae, D.; Chevaile, A.; Cobbe, S.; Gronhagen-Riska, C.; De Lima, J.; Lins, R.; Mayer, G.; McMahon, A.; Parving, H.; Samuelsson, O.; Sonkodi, S.; Suleymanlar, G.; Tsakiris, D.; Tesar, V.; et al.
2003Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemiaO'Brien, S.; Guilhot, F.; Larson, R.; Gathmann, I.; Baccarani, M.; Cervantes, F.; Cornelissen, J.; Fischer, T.; Hochhaus, A.; Hughes, T.; Lechner, K.; Nielsen, J.; Rousselot, P.; Reiffers, J.; Saglio, G.; Shepherd, J.; Simonsson, B.; Gratwohl, A.; Goldman, J.; Kantarjian, H.; et al.
2003Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationKalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al.
2008Effects of alteplase beyond 3 h after stroke in the Echoplanar Imaging Thrombolytic Evaluation Trial (EPITHET): a placebo-controlled randomised trialDavis, S.; Donnan, G.; Parsons, M.; Levi, C.; Butcher, K.; Peeters, A.; Barber, P.; Bladin, C.; De Silva, D.; Byrnes, G.; Chalk, J.; Fink, J.; Kimber, T.; Schultz, D.; Hand, P.; Frayne, J.; Hankey, G.; Muir, K.; Gerraty, R.; Tress, B.; et al.