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Issue Date
Title
Author(s)
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
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.
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.
1996
Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndrome
Gedeon, A.
;
Kozman, H.
;
Robinson, H.
;
Pilia, G.
;
Schlessinger, D.
;
Turner, G.
;
Mulley, J.
2003
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3
Gedeon, A.
;
Nelson, J.
;
Gecz, J.
;
Mulley, J.
1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Gecz, J.
;
Baker, E.
;
Donnelly, A.
;
Ming, J.
;
McDonald-McGinn, D.
;
Spinner, N.
;
Zackai, E.
;
Sutherland, G.
;
Mulley, J.
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.
2005
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?
Tan, N.
;
Heron, S.
;
Scheffer, I.
;
Berkovic, S.
;
Mulley, J.
1999
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation
Gecz, J.
;
Barnett, S.
;
Liu, J.
;
Hollway, G.
;
Donnelly, A.
;
Eyre, H.
;
Eshkevari, H.
;
Baltazar, R.
;
Grunn, A.
;
Nagaraja, R.
;
Gilliam, C.
;
Peltonen, L.
;
Sutherland, G.
;
Baron, M.
;
Mulley, J.
2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy
McLellan, A.
;
Phillips, H.
;
Rittey, C.
;
Kirkpatrick, M.
;
Mulley, J.
;
Goudie, D.
;
Stephenson, J.
;
Tolmie, J.
;
Scheffer, I.
;
Berkovic, S.
;
Zuberi, S.
Discover
Author
4
Gecz, J.
4
Gedeon, A.
3
Berkovic, S.
3
Donnelly, A.
3
Scheffer, I.
2
Colley, A.
2
Phillips, H.
2
Stephenson, J.
2
Sutherland, G.
2
Tolmie, J.
.
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Subject
10
Humans
9
Male
8
Female
6
Chromosome Mapping
6
X Chromosome
5
Genetic Linkage
4
Adult
4
Lod Score
4
Molecular Sequence Data
4
Pedigree
.
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