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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.
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
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon, A.
;
Donnelly, A.
;
Mulley, J.
;
Kerr, B.
;
Turner, G.
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.
1995
FRAXE and mental retardation
Mulley, J.
;
Yu, S.
;
Loesch, D.
;
Hay, D.
;
Donnelly, A.
;
Gedeon, A.
;
Carbonell, P.
;
Lopez, I.
;
Glover, G.
;
Garbarron, I.
;
Yu, P.
;
Baker, E.
;
Haan, E.
;
Hockey, A.
;
Knight, S.
;
Daview, K.
;
Richards, R.
;
Sutherland, G.
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.
Discover
Author
3
Sutherland, G.
2
Baker, E.
2
Gecz, J.
2
Gedeon, A.
2
Haan, E.
1
Baltazar, R.
1
Barnett, S.
1
Baron, M.
1
Carbonell, P.
1
Colley, A.
.
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Subject
4
Female
4
Intellectual Disability
4
Male
3
Chromosome Mapping
3
Genetic Linkage
3
Genetic Markers
2
Adult
2
Child
2
Exons
2
Gene Expression
.
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Date issued
2
1999
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1996
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1995