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Results 21-28 of 28 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2012Identification of a novel pneumococcal vaccine antigen preferentially expressed during meningitis in miceMahdi, L.; Wang, H.; Van der Hoek, M.; Paton, J.; Ogunniyi, A.
2010Canal cristae growth and fiber extension to the outer hair cells of the mouse ear require Prox1 activityFritzsch, B.; Dillard, M.; Lavado, A.; Harvey, N.; Israt, J.; Koch, K.-W.
2018Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypesChong, C.-E.; Venugopal, P.; Stokes, P.; Lee, Y.; Brautigan, P.; Yeung, D.; Babic, M.; Engler, G.; Lane, S.; Klingler-Hoffmann, M.; Matthews, J.; D'Andrea, R.; Brown, A.; Hahn, C.; Scott, H.
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.
2015Characterization of ANKRD11 mutations in humans and mice related to KBG syndromeWalz, K.; Cohen, D.; Neilsen, P.; Foster, J.; Brancati, F.; Demir, K.; Fisher, R.; Moffat, M.; Verbeek, N.; Bjørgo, K.; Lo Castro, A.; Curatolo, P.; Novelli, G.; Abad, C.; Lei, C.; Zhang, L.; Diaz-Horta, O.; Young, J.; Callen, D.; Tekin, M.
2017Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesisHinze, S.; Jackson, M.; Lie, S.; Jolly, L.; Field, M.; Barry, S.; Harvey, R.; Shoubridge, C.
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.