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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
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.
2000
Carbohydrate-deficient glycoprotein syndrome: Beyond the screen
Fletcher, J.
;
Matthijs, G.
;
Jaeken, J.
;
Van Schaftingen, E.
;
Nelson, P.
1996
Clinicopathologic features of congenital aneurysms of the great vessels
Ades, L.
;
Knight, W.
;
Byard, R.
;
Bateman, J.
;
Esquivel, J.
;
Mee, R.
;
Haan, E.
;
Milewicz, D.
1998
Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype
Yamada, N.
;
Fukuda, S.
;
Tomatsu, S.
;
Muller, V.
;
Hopwood, J.
;
Nelson, J.
;
Kato, Z.
;
Yamagishi, A.
;
Sukegawa, K.
;
Kondo, M.
;
Orii, T.
2017
Targeted insertion of an anti-CD2 monoclonal antibody transgene into the GGTA1 locus in pigs using FokI-dCas9
Nottle, M.
;
Salvaris, E.
;
Fisicaro, N.
;
McIlfatrick, S.
;
Vassiliev, I.
;
Hawthorne, W.
;
O'Connell, P.
;
Brady, J.
;
Lew, A.
;
Cowan, P.
1998
Recombinant human sulphamidase: expression, amplification, purification and characterization
Bielicki, J.
;
Hopwood, J.
;
Melville, E.
;
Anson, D.
1995
Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase
Bielicki, J.
;
Fuller, M.
;
Guo, X.H.
;
Morris, C.
;
Hopwood, J.
;
Anson, D.
1997
Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)
Bunge, S.
;
Ince, H.
;
Steglich, C.
;
Kleijer, W.
;
Beck, M.
;
Zaremba, J.
;
van Diggelen, O.
;
Weber, B.
;
Hopwood, J.
;
Gal, A.
Discover
Author
31
Hopwood, J.
10
Meikle, P.
9
Brooks, D.
9
Fuller, M.
7
Anson, D.
6
Yogalingam, G.
5
Muller, V.
4
Bielicki, J.
4
Paton, B.
4
Weber, B.
.
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Subject
47
Humans
25
Animals
21
Cells, Cultured
15
Mutation
15
Skin
14
Female
14
Male
13
Cricetinae
12
Cell Line
11
CHO Cells
.
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Date issued
6
2010 - 2017
28
2000 - 2009
18
1995 - 1999