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News / The University of Adelaide Libraries [1993-2001]
NEWSLINE
University of Adelaide Library News [1979-1993]
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Results 1-10 of 14 (Search time: 0.01 seconds).
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Issue Date
Title
Author(s)
1999
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Colley, A.
;
Jamieson, R.
;
Thompson, E.
;
Rogers, J.
;
Sillence, D.
;
Tiller, G.
;
Mulley, J.
;
Gecz, J.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
2013
Characterization of mutants of a highly cross-reactive calcium-binding protein from Brassica pollen for allergen-specific immunotherapy
Garmatiuk, T.
;
Swoboda, I.
;
Twardosz-Kropfmüller, A.
;
Dall’Antonia, F.
;
Keller, W.
;
Singh, M.B.
;
Bhalla, P.L.
;
Okada, T.
;
Toriyama, K.
;
Weber, M.
;
Ghannadan, M.
;
Sperr, W.R.
;
Blatt, K.
;
Valent, P.
;
Klein, B.
;
Niederberger, V.
;
Curin, M.
;
Balic, N.
;
Spitzauer, S.
;
Valenta, R.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2003
Development of a diagnostic PCR assay that targets a heat-shock protein gene (groES) for detection of Pseudomonas spp. in cystic fibrosis patients
Clarke, L.
;
Moore, J.
;
Millar, B.
;
Garske, L.
;
Xu, J.
;
Heuzenroeder, M.
;
Crowe, M.
;
Elborn, J.
2013
HIV non-B subtype distribution: Emerging trends and risk factors for imported and local infections newly diagnosed in South Australia
Hawke, K.
;
Waddell, R.
;
Gordon, D.
;
Ratcliff, R.
;
Ward, P.
;
Kaldor, J.
2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Freude, K.
;
Hoffmann, K.
;
Jensen, L.
;
Delatycki, M.
;
des Portes, V.
;
Moser, B.
;
Hamel, B.
;
van Bokhoven, H.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
Gecz, J.
;
Lenzner, S.
;
Kalscheuer, V.
;
Ropers, H.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
Discover
Author
6
Gecz, J.
2
Colley, A.
2
Gedeon, A.
2
Haan, E.
2
Mulley, J.
2
Tiller, G.
1
Ades, L.
1
Ahmed, S.
1
Ali, A.
1
Balic, N.
.
next >
Subject
14
Humans
7
Pedigree
6
Amino Acid Sequence
6
Middle Aged
6
Mutation
5
Adolescent
5
Base Sequence
4
Aged
4
Animals
4
Child, Preschool
.
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Date issued
4
2010 - 2014
8
2000 - 2009
2
1996 - 1999