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Issue Date
Title
Author(s)
2004
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
Weaving, L.
;
Christodoulou, J.
;
Williamson, S.
;
Friend, K.
;
McKenzie, O.
;
Archer, H.
;
Evans, J.
;
Clarke, A.
;
Pelka, G.
;
Tam, P.
;
Watson, C.
;
Lahooti, H.
;
Ellaway, C.
;
Bennetts, B.
;
Leonard, H.
;
Gecz, J.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
1995
In vivo delivery of human α-L-iduronidase in mice implanted with neo-organs
Salvetti, A.
;
Moullier, P.
;
Cornet, V.
;
Brooks, D.
;
Hopwood, J.
;
Danos, O.
;
Heard, J.M.
2001
A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant
Bhattacharyya, R.
;
Gliddon, B.
;
Beccari, T.
;
Hopwood, J.
;
Stanley, P.
2004
Detection and significance of the potentially pathogenic amoeboflagellate Naegleria italica in Australia
Robinson, B.
;
Monis, P.
;
Henderson, M.
;
Gelonese, S.
;
Ferrante, A.
2003
Mouse sulphamidase gene: characterization of the promoter region of the gene and expression in mouse tissues
Costanzi, E.
;
Beccari, T.
;
Aisa, M.
;
Tiribuzi, R.
;
Hopwood, J.
;
Orlacchio, A.
2002
Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation
Glaros, E.
;
Turner, C.
;
Parkinson, E.
;
Hopwood, J.
;
Brooks, D.
2003
Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype
Maxwell, M.
;
Bjorkman, J.
;
Nguyen, T.
;
Sharp, P.
;
Finnie, J.
;
Paterson, C.
;
Tonks, I.
;
Paton, B.
;
Kay, G.
;
Crane, D.
2004
LGI1 mutations in temporal lobe epilepsies
Berkovic, S.
;
Izzillo, P.
;
McMahon, J.
;
Harkin, L.
;
McIntosh, A.
;
Phillips, H.
;
Briellmann, R.
;
Wallace, R.
;
Mazarib, A.
;
Neufeld, M.
;
Korczyn, A.
;
Scheffer, I.
;
Mulley, J.
1995
Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a 'hot-spot' for recombination at 16p12
Callen, D.
;
Lane, S.
;
Kozman, H.
;
Kremmidiotis, G.
;
Whitmore, S.
;
Lowenstein, M.
;
Doggett, N.
;
Kenmochi, N.
;
Page, D.
;
Maglott, D.
;
Nierman, W.
;
Murakawa, K.
;
Sikela, J.
;
Houlgatte, R.
;
Auffray, C.
;
Sutherland, G.
Discover
Author
18
Sutherland, G.
9
Eyre, H.
7
Baker, E.
7
Hopwood, J.
6
Gecz, J.
3
Beccari, T.
3
Callen, D.
3
Copeland, N.
3
et al.
3
Jenkins, N.
.
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Subject
38
Animals
32
Humans
24
Base Sequence
22
Amino Acid Sequence
16
Chromosome Mapping
13
DNA, Complementary
13
Male
9
In Situ Hybridization, Fluorescence
9
Sequence Homology, Amino Acid
8
Cloning, Molecular
.
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Date issued
3
2010 - 2012
17
2000 - 2009
18
1995 - 1999