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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.
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
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.
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.
1997
Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2
Horwitz, M.
;
Benson, K.
;
Li, F.Q.
;
Wolff, J.
;
Leppert, M.
;
Hobson, L.
;
Mangelsdorf, M.
;
Yu, S.
;
Hewett, D.
;
Richards, R.
;
Raskind, W.
1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town, M.
;
Jean, G.
;
Cherqui, S.
;
Attard, M.
;
Forestier, L.
;
Whitmore, S.
;
Callen, D.
;
Gribouval, O.
;
Broyer, M.
;
Bates, G.
;
van't Hoff, W.
;
Antignac, C.
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.
1997
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever Locus (MEFV) on chromosome 16p13.3
Sood, R.
;
Blake, T.
;
Aksentijevich, I.
;
Wood, G.
;
Chen, X.
;
Gardner, D.
;
Shelton, D.
;
Mangelsdorf, M.
;
Orsborn, A.
;
Pras, E.
;
Balow, J.
;
Centola, M.
;
Deng, Z.
;
Zaks, N.
;
Chen, X.
;
Richards, N.
;
Fischel-Ghodsian, N.
;
Rotter, J.
;
Pras, M.
;
Shohat, M.
;
et al.
Discover
Author
6
Mulley, J.
3
Donnelly, A.
3
Sutherland, G.
2
Callen, D.
2
Colley, A.
2
Eyre, H.
2
Gecz, J.
2
Gedeon, A.
2
Mangelsdorf, M.
2
Richards, R.
.
next >
Subject
11
Humans
9
Male
8
Chromosome Mapping
8
Female
6
Molecular Sequence Data
5
Genetic Linkage
5
X Chromosome
4
In Situ Hybridization, Fluorescence
4
Intellectual Disability
4
Lod Score
.
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Date issued
2
1999
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1998
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1996
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1995