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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 1-8 of 8 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
1995
Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A.
;
Slaney, S.
;
Oldridge, M.
;
Poole, M.
;
Ashworth, G.
;
Hockley, A.
;
Hayward, R.
;
David, D.
;
Pulleyn, L.
;
Rutland, P.
;
Malcolm, S.
;
Winter, R.
;
Reardon, W.
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.
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.
2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Tiller, G.
;
Le Merrer, M.
;
Heuertz, S.
;
Tranebjaerg, L.
;
Chitayat, D.
;
Robertson, S.
;
Glass, I.
;
Savarirayan, R.
;
Cole, W.
;
Rimoin, D.
;
Kousseff, B.
;
Ohashi, H.
;
Zabel, B.
;
Munnich, A.
;
Gecz, J.
;
Mulley, J.
2001
Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
Wallace, R.
;
Scheffer, I.
;
Barnett, S.
;
Richards, M.
;
Dibbens, L.
;
Desai, R.
;
Lerman-Sagie, T.
;
Lev, D.
;
Mazarib, A.
;
Brand, N.
;
Ben-Zeev, B.
;
Goikhman, I.
;
Singh, R.
;
Kremmidiotis, G.
;
Gardner, A.
;
Sutherland, G.
;
George Jr., A.
;
Mulley, J.
;
Berkovic, S.
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.
Discover
Author
5
Gecz, J.
2
Gedeon, A.
2
Mulley, J.
2
Tiller, G.
1
Ades, L.
1
Ashworth, G.
1
Barnett, S.
1
Ben-Zeev, B.
1
Berkovic, S.
1
Brand, N.
.
next >
Subject
8
Humans
5
Amino Acid Sequence
5
Base Sequence
5
Female
5
RNA, Messenger
4
Pedigree
4
Phenotype
3
Animals
3
DNA Mutational Analysis
3
Genetic Linkage
.
next >
Date issued
6
2000 - 2010
2
1995 - 1999