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Results 1-9 of 9 (Search time: 0.005 seconds).
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Issue Date
Title
Author(s)
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.
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.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
1997
Mutation detection in FGFR2 craniosynostosis syndromes
Hollway, G.
;
Suthers, G.
;
Haan, E.
;
Thompson, E.
;
David, D.
;
Gecz, J.
;
Mulley, J.
1997
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
Gecz, J.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
2002
X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX
Scheffer, I.
;
Wallace, R.
;
Phillips, F.
;
Hewson, P.
;
Reardon, K.
;
Parasivam, G.
;
Stromme, P.
;
Berkovic, S.
;
Gecz, J.
;
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.
Discover
Author
4
Gedeon, A.
4
Sutherland, G.
2
Berkovic, S.
2
Haan, E.
2
Hollway, G.
2
Scheffer, I.
2
Stromme, P.
2
Thompson, E.
2
Turner, G.
2
Wallace, R.
.
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Subject
9
Humans
7
Male
6
Molecular Sequence Data
6
Pedigree
5
Adult
4
Amino Acid Sequence
4
Base Sequence
4
Intellectual Disability
4
Mutation
4
X Chromosome
.
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Date issued
4
2000 - 2010
5
1996 - 1999