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Results 1-10 of 11 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
1999
CD44
Kremmidiotis, G.
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.
2003
Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice
Raben, N.
;
Nagaraju, K.
;
Lee, A.
;
Lu, N.
;
Rivera, Y.
;
Jatkar, T.
;
Hopwood, J.
;
Plotz, 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.
2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
Berkovic, S.
;
Dibbens, L.
;
Oshlack, A.
;
Silver, J.
;
Katerelos, M.
;
Vears, D.
;
Lullmann-Rauch, R.
;
Blanz, J.
;
Zhang, K.
;
Stankovich, J.
;
Kalnins, R.
;
Dowling, J.
;
Andermann, E.
;
Andermann, F.
;
Faldini, E.
;
D'Hooge, R.
;
Vadlamudi, L.
;
Macdonnell, R.
;
Hodgson, B.
;
Bayly, M.
;
et al.
2001
Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: implications for therapy
Raben, N.
;
Lu, N.
;
Nagaraju, K.
;
Rivera, Y.
;
Lee, A.
;
Yan, B.
;
Byrne, B.
;
Meikle, P.
;
Umapathysivam, K.
;
Hopwood, J.
;
Plotz, P.
2008
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis
Martin, D.
;
Atmuri, V.
;
Hemming, R.
;
Farley, J.
;
Mort, J.
;
Byers, S.
;
Hombach-Klonisch, S.
;
Stern, R.
;
Triggs-Raine, B.
2007
Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes
Fraldi, A.
;
Hemsley, K.
;
Crawley, A.
;
Lombardi, A.
;
Lau, A.
;
Sutherland, L.
;
Auricchio, A.
;
Ballabio, A.
;
Hopwood, 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.
Discover
Author
3
Hopwood, J.
2
Dibbens, L.
2
Gecz, J.
2
Jolly, L.
2
Lee, A.
2
Lu, N.
2
Nagaraju, K.
2
Plotz, P.
2
Raben, N.
2
Rivera, Y.
.
next >
Subject
5
Disease Models, Animal
4
Female
4
Male
3
Phenotype
2
alpha-Glucosidases
2
Brain
2
Cell Movement
2
Cells, Cultured
2
CRISPR-Cas Systems
2
Epilepsy
.
next >
Date issued
5
2010 - 2017
5
2000 - 2009
1
1999 - 1999