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Results 11-14 of 14 (Search time: 0.002 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.
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.
2017A mutation in the viral sensor 2’-5’-oligoadenylate synthetase 2 causes failure of lactationOakes, S.R.; Gallego-Ortega, D.; Stanford, P.M.; Junankar, S.; Au, W.W.Y.; Kikhtyak, Z.; von Korff, A.; Sergio, C.M.; Law, A.M.K.; Castillo, L.E.; Allerdice, S.L.; Young, A.I.J.; Piggin, C.; Whittle, B.; Bertram, E.; Naylor, M.J.; Roden, D.L.; Donovan, J.; Korennykh, A.; Goodnow, C.C.; et al.; Wells, C.A.