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Results 1-10 of 10 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2017
Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling
Hughes, J.
;
Dawson, R.
;
Tea, M.
;
McAninch, D.
;
Piltz, S.
;
Jackson, D.
;
Stewart, L.
;
Ricos, M.
;
Dibbens, L.
;
Harvey, N.
;
Thomas, P.
2013
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Buchovecky, C.
;
Turley, S.
;
Brown, H.
;
Kyle, S.
;
McDonald, J.
;
Liu, B.
;
Pieper, A.
;
Huang, W.
;
Katz, D.
;
Russell, D.
;
Shendure, J.
;
Justice, M.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
2010
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
Dimasi, D.
;
Chen, J.
;
Hewitt, A.
;
Klebe, S.
;
Davey, R.
;
Stirling, J.
;
Thompson, E.
;
Forbes, R.
;
Tan, T.
;
Savarirayan, R.
;
Mackey, D.
;
Healey, P.
;
Mitchell, P.
;
Burdon, K.
;
Craig, J.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2010
High-spatial resolution matrix-assisted laser desorption ionization imaging analysis of glucosylceramide in spleen sections from a mouse model of Gaucher Disease
Snel, M.
;
Fuller, M.
2012
Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII
Pyragius, C.
;
Derrick Roberts, A.
;
Ding, X.
;
Zarrinkalam, K.
;
McIntyre, C.
;
Anderson, P.
;
Anson, D.
;
Byers, S.
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.
2017
Viperin is an important host restriction factor in control of Zika virus infection
Van Der Hoek, K.
;
Eyre, N.
;
Shue, B.
;
Khantisitthiporn, O.
;
Glab-Ampi, K.
;
Carr, J.
;
Gartner, M.
;
Jolly, L.
;
Thomas, P.
;
Adikusuma, F.
;
Jankovic-Karasoulos, T.
;
Roberts, C.
;
Helbig, K.
;
Beard, M.
2017
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
Hinze, S.
;
Jackson, M.
;
Lie, S.
;
Jolly, L.
;
Field, M.
;
Barry, S.
;
Harvey, R.
;
Shoubridge, C.
Discover
Author
3
Jolly, L.
2
Gecz, J.
2
Raynaud, M.
2
Shoubridge, C.
2
Thomas, P.
1
Abidi, F.
1
Adikusuma, F.
1
Anderson, P.
1
Anson, D.
1
Barry, S.
.
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Subject
9
Mice
6
Humans
5
Disease Models, Animal
5
Female
5
Male
4
Mutation
3
Epilepsy
3
Neurons
2
CRISPR-Cas Systems
2
Gene Expression Regulation
.
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Date issued
3
2017
1
2016
1
2014
2
2013
1
2012
2
2010