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Issue Date
Title
Author(s)
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.
1995
The closely linked genes encoding the myeloid nuclear differentation antigen (MNDA) and IFI16 exhibit contrasting haemopoietic expression
Dawson, M.
;
Trapani, J.
;
Briggs, R.
;
Nicholl, J.
;
Sutherland, G.
;
Baker, E.
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.
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
Fcα/μ receptor is a single gene-family member closely related to polymeric immunoglobulin receptor encoded on Chromosome 1
Shimizu, Y.
;
Honda, S.
;
Yotsumoto, K.
;
Tahara-Hanaoka, S.
;
Eyre, H.
;
Sutherland, G.
;
Endo, Y.
;
Shibuya, K.
;
Koyama, A.
;
Nakauchi, H.
;
Shibuya, A.
2000
Y-receptor-like genes GPR72 and GPR73: molecular cloning, genomic organisation and assignment to human chromosome 11q21.1 and 2p14 and mouse chromosome 9 and 6
Parker, R.
;
Liu, M.
;
Eyre, H.
;
Copeland, N.
;
Gilbert, D.
;
Crawford, J.
;
Sutherland, G.
;
Jenkins, N.
;
Herzog, H.
2007
Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VI
Auclair, D.
;
Hopwood, J.
;
Lemontt, J.
;
Chen, L.
;
Byers, S.
2004
In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIA
Lau, A.
;
Hemsley, K.
;
Meedeniya, A.
;
Hopwood, J.
Discover
Author
22
Sutherland, G.
18
Gecz, J.
17
Hopwood, J.
11
Eyre, H.
8
et al.
7
Baker, E.
6
Copeland, N.
6
Jenkins, N.
5
Brooks, D.
5
Gilbert, D.
.
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Subject
90
Animals
32
Molecular Sequence Data
31
Male
26
Female
22
Amino Acid Sequence
22
Base Sequence
21
Chromosome Mapping
15
DNA, Complementary
15
Mutation
14
Brain
.
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Date issued
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2010 - 2018
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2000 - 2009
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1995 - 1999