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Results 21-28 of 28 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
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.
2012Dual roles of PARP-1 promote cancer growth and progressionSchiewer, M.; Goodwin, J.; Han, S.; Brenner, J.; Augello, M.; Dean, J.; Liu, F.; Planck, J.; Ravindranathan, P.; Chinnaiyan, A.; McCue, P.; Gomella, L.; Raj, G.; Dicker, A.; Brody, J.; Pascal, J.; Centenera, M.; Butler, L.; Tilley, W.; Feng, F.; et al.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2018Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderFrints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.
2017MicroRNA-194 promotes prostate cancer metastasis by inhibiting SOCS2Das, R.; Gregory, P.A.; Fernandes, R.C.; Denis, I.; Wang, Q.; Townley, S.L.; Zhao, S.G.; Hanson, A.; Pickering, M.A.; Armstrong, H.K.; Lokman, N.A.; Ebrahimie, E.; Davicioni, E.; Jenkins, R.B.; Karnes, R.J.; Ross, A.E.; Den, R.B.; Klein, E.A.; Chi, K.N.; Ramshaw, H.S.; et al.
202041BB-based and CD28-based CD123-redirected T-cells ablate human normal hematopoiesis in vivoBaroni, M.L.; Sanchez Martinez, D.; Gutierrez Aguera, F.; Roca Ho, H.; Castella, M.; Zanetti, S.; Velasco Hernandez, T.; Diaz de la Guardia, R.; Castaño, J.; Anguita, E.; Vives, S.; Nomdedeu, J.; Lapillone, H.; Bras, A.E.; van der Velden, V.H.J.; Junca, J.; Marin, P.; Bataller, A.; Esteve, J.; Vick, B.; et al.