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News / The University of Adelaide Libraries [1993-2001]
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University of Adelaide Library News [1979-1993]
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Results 1-10 of 29 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
1998
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Donnelly, A.
;
Haan, E.
;
Manson, J.
;
Mulley, J.
1998
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
Phillips, H.
;
Scheffer, I.
;
Crossland, K.
;
Bhatia, K.
;
Fish, D.
;
Marsden, C.
;
Howell, S.
;
Stephenson, J.
;
Tolmie, J.
;
Plazzi, G.
;
Eeg-Olofsson, O.
;
Singh, R.
;
Lopes-Cendes, I.
;
Andermann, E.
;
Berkovic, S.
;
Mulley, J.
1996
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)
Gedeon, A.
;
Turner, G.
;
Mulley, J.
1996
A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia
Donnelly, A.
;
Colley, A.
;
Crimmins, D.
;
Mulley, J.
1996
FRAGILE X SYNDROME AND FRAGILE XE MENTAL RETARDATION [Review]
Sutherland, G.
;
Mulley, J.
1996
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon, A.
;
Donnelly, A.
;
Mulley, J.
;
Kerr, B.
;
Turner, G.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
1995
X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome
Gedeon, A.
;
Wilson, M.
;
Colley, A.
;
Sillence, D.
;
Mulley, J.
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.
Discover
Author
10
Sutherland, G.
9
Gedeon, A.
8
Gecz, J.
6
Berkovic, S.
6
Donnelly, A.
6
Haan, E.
6
Hollway, G.
6
Phillips, H.
5
Scheffer, I.
4
Colley, A.
.
next >
Subject
8
Genetic Markers
7
Adult
7
Base Sequence
6
Amino Acid Sequence
6
Polymerase Chain Reaction
5
Child
5
Gene Expression
5
Genetic Carrier Screening
5
Mutation
5
Point Mutation
.
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Date issued
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1999
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1998
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1997
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1996
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1995