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Results 1-10 of 16 (Search time: 0.002 seconds).
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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
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.
1996
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon, A.
;
Donnelly, A.
;
Mulley, J.
;
Kerr, B.
;
Turner, G.
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.
1996
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
Gedeon, A.
;
Haan, E.
;
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.
1996
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation
Gedeon, A.
;
Glass, I.
;
Connor, J.
;
Mulley, J.
2022
BAF complex-mediated chromatin relaxation is required for establishment of X chromosome inactivation
Keniry, A.
;
Jansz, N.
;
Gearing, L.J.
;
Wanigasuriya, I.
;
Chen, J.
;
Nefzger, C.M.
;
Hickey, P.F.
;
Gouil, Q.
;
Liu, J.
;
Breslin, K.A.
;
Iminitoff, M.
;
Beck, T.
;
Tapia Del Fierro, A.
;
Whitehead, L.
;
Jarratt, A.
;
Kinkel, S.A.
;
Taberlay, P.C.
;
Willson, T.
;
Pakusch, M.
;
Ritchie, M.E.
;
et al.
Discover
Author
2
Sillence, D.
1
Allen, K.
1
Bagrodia, S.
1
Baltazar, R.
1
Barnett, S.
1
Baron, M.
1
Beck, T.
1
Bione, S.
1
Bolhuis, P.
1
Breslin, K.A.
.
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Subject
14
Humans
13
Male
12
Female
10
Genetic Linkage
8
Chromosome Mapping
8
Intellectual Disability
6
Pedigree
6
Syndrome
5
Genetic Markers
5
Molecular Sequence Data
.
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Date issued
1
2020 - 2022
15
1995 - 1999