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Results 1-10 of 14 (Search time: 0.003 seconds).
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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.
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.
1995
Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation group
Poulos, A.
;
Christodoulou, J.
;
Chow, C.
;
Goldblatt, J.
;
Paton, B.
;
Orii, T.
;
Suzuki, Y.
;
Shimozawa, N.
2000
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patient
Yogalingam, G.
;
Weber, B.
;
Meehan, J.
;
Rogers, J.
;
Hopwood, J.
1998
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene
Gibson, M.
;
Ellis, S.
;
Ades, L.
;
Haan, E.
;
Cleary, E.
2008
Gender specific effects on the actin-remodelling protein Flightless I and TGF-beta 1 contribute to impaired wound healing in aged skin
Adams, D.
;
Studwick, X.
;
Kopeki, Z.
;
Hooper-Jones, J.
;
Matthaei, K.
;
Campbell, H.
;
Powell, B.
;
Cowin, A.
2005
Enzyme replacement therapy for Gaucher disease in Australia
Goldblatt, J.
;
Szer, J.
;
Fletcher, J.
;
McGill, J.
;
Rowell, J.
;
Wilson, M.
Discover
Author
3
Goldblatt, J.
3
Hopwood, J.
2
Ades, L.
2
Christodoulou, J.
2
Cowin, A.
2
Fletcher, J.
2
Haan, E.
2
Orii, T.
2
Thorburn, D.
1
Adams, D.
.
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Subject
14
Humans
9
Female
6
Mutation
5
Animals
4
Cells, Cultured
4
Child
4
Infant
4
Molecular Sequence Data
4
Phenotype
3
Adult
.
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Date issued
3
2010 - 2017
6
2000 - 2009
5
1995 - 1999