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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.
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
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.
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.
1997
Rapid detection of euchromatin by Alu-PRINS: use in clinical cytogenetics
Callen, D.
;
Yip, M.Y.
;
Eyre, H.
1996
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
Gedeon, A.
;
Haan, E.
;
Mulley, J.
Discover
Author
15
Mulley, J.
9
Gedeon, A.
7
Callen, D.
6
Sutherland, G.
5
Colley, A.
5
Eyre, H.
4
Donnelly, A.
4
Haan, E.
4
Richards, R.
3
Baker, E.
.
next >
Subject
23
Female
16
Chromosome Mapping
15
Pedigree
12
Genetic Linkage
12
Molecular Sequence Data
12
X Chromosome
9
Genetic Markers
8
Amino Acid Sequence
8
Intellectual Disability
8
Syndrome
.
next >
Date issued
4
1999
11
1998
4
1997
7
1996
2
1995