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Results 11-20 of 35 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
Jolly, L.
;
Homan, C.
;
Jacob, R.
;
Barry, S.
;
Gecz, J.
2010
Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders
Hemsley, K.
;
Hopwood, J.
2012
A possible murine model for investigation of pathogenesis of Sudden Infant Death Syndrome
Bettelheim, K.
;
Luke, R.
;
Johnston, N.
;
Pearce, J.
;
Goldwater, P.
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.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
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.
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.
2010
Robust, reversible gene knockdown using a single lentiviral short hairpin RNA vector
Brown, C.
;
Sadlon, T.
;
Gargett, T.
;
Melville, E.
;
Zhang, R.
;
Drabsch, Y.
;
Ling, M.
;
Strathdee, C.
;
Gonda, T.
;
Barry, S.
2010
Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA
Derrick Roberts, A.
;
Fletcher, J.
;
Moore, L.
;
Byers, S.
Discover
Author
10
Gecz, J.
6
Jolly, L.
5
Barry, S.
4
Corbett, M.
4
Cowin, A.
4
Shoubridge, C.
3
et al.
3
Kalscheuer, V.
3
Melville, E.
3
Parsons, D.
.
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Subject
23
Humans
20
Female
18
Male
11
Disease Models, Animal
10
Mutation
9
Mice, Knockout
6
Brain
6
Intellectual Disability
5
Carrier Proteins
5
Mice, Inbred C57BL
.
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Date issued
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2017
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2014
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2013
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2012
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2011
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2010