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News / The University of Adelaide Libraries [1993-2001]
NEWSLINE
University of Adelaide Library News [1979-1993]
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Issue Date
Title
Author(s)
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.
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.
1998
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Scheffer, I.
;
Phillips, H.
;
O'Brien, C.
;
Saling, M.
;
Wrennall, J.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
1998
Gene localisation for an autosomal dominant familial periodic fever to 12p13.
Mulley, J.
;
Saar, K.
;
Hewitt, G.
;
Rueschendorf, F.
;
Phillips, H.
;
Colley, A.
;
Sillence, D.
;
Reis, A.
;
Wilson, M.
1998
PAK3 mutation in nonsyndromic X-linked mental retardation
Allen, K.
;
Gleeson, J.
;
Bagrodia, S.
;
Partington, M.
;
MacMillan, J.
;
Cerione, R.
;
Mulley, J.
;
Walsh, C.
Discover
Author
4
Phillips, H.
3
Berkovic, S.
3
Scheffer, I.
2
Reis, A.
2
Saar, K.
2
Singh, R.
2
Wallace, R.
1
Allen, K.
1
Andermann, E.
1
Bagrodia, S.
.
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Subject
6
Humans
6
Male
4
Pedigree
3
Molecular Sequence Data
3
Mutation
2
Animals
2
Chromosome Mapping
2
Genes, Dominant
2
Genetic Linkage
2
Genetic Markers
.
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