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Results 11-17 of 17 (Search time: 0.001 seconds).
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Issue Date
Title
Author(s)
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
Bruno, I.
;
Karam, R.
;
Huang, L.
;
Bhardwaj, A.
;
Lou, C.
;
Shum, E.
;
Song, H.
;
Corbett, M.
;
Gifford, W.
;
Gecz, J.
;
Pfaff, S.
;
Wilkinson, M.
2010
Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disability
Gecz, J.
2014
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth
Homan, C.
;
Kumar, R.
;
Nguyen, L.
;
Haan, E.
;
Raymond, F.
;
Abidi, F.
;
Raynaud, M.
;
Schwartz, C.
;
Wood, S.
;
Gecz, J.
;
Jolly, L.
2016
Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice
Pederick, D.
;
Homan, C.
;
Jaehne, E.
;
Piltz, S.
;
Haines, B.
;
Baune, B.
;
Jolly, L.
;
Hughes, J.
;
Gecz, J.
;
Thomas, P.
2017
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors
Bridges, C.
;
Tan, M.
;
Premarathne, S.
;
Nanayakkara, D.
;
Bellette, B.
;
Zencak, D.
;
Domingo, D.
;
Gecz, J.
;
Murtaza, M.
;
Jolly, L.
;
Wood, S.
2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis
Stegeman, S.
;
Jolly, L.
;
Premarathne, S.
;
Gecz, J.
;
Richards, L.
;
Mackay-Sim, A.
;
Wood, S.
;
Alsina, B.
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Author
9
Jolly, L.
4
Corbett, M.
4
Gardner, A.
4
Shoubridge, C.
4
Wood, S.
3
Haan, E.
3
Homan, C.
3
Kalscheuer, V.
3
Nguyen, L.
2
Afawi, Z.
.
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Subject
17
Animals
16
Humans
12
Female
12
Male
10
Mutation
8
Intellectual Disability
7
Brain
7
Neurons
6
Pedigree
5
Mice, Knockout
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