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Issue Date
Title
Author(s)
1996
Fragile X Syndrome and other X-linked Causes of Mental Handicap
Sutherland, G.
;
Mulley, J.
1995
Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys
Gedeon, A.
;
Keinanen, M.
;
Ades, L.
;
Kaarianen, H.
;
Gecz, J.
;
Baker, E.
;
Sutherland, G.
;
Mulley, J.
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
1997
Short report on DNA marker at candidate locus. SSCP variants within the a4 subunit of the neuronal nicotinic acetylcholine receptor gene
Phillips, H.
;
Mulley, J.
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.
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
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
Regional localisation of two non-specific X-linked mental retardation genes (MRX 30 and MRX 31)
Donnelly, A.
;
Partington, M.
;
Ryan, A.
;
Mulley, J.
1996
FRAGILE X SYNDROME AND FRAGILE XE MENTAL RETARDATION [Review]
Sutherland, G.
;
Mulley, J.
Discover
Author
13
Sutherland, G.
10
Gecz, J.
10
Gedeon, A.
7
Berkovic, S.
7
Donnelly, A.
7
Phillips, H.
6
Haan, E.
6
Hollway, G.
5
Scheffer, I.
4
Colley, A.
.
next >
Subject
29
Humans
21
Female
21
Male
14
Genetic Linkage
14
Pedigree
13
X Chromosome
11
Intellectual Disability
10
Chromosome Mapping
10
Molecular Sequence Data
9
Syndrome
.
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Date issued
5
1999
8
1998
5
1997
12
1996
5
1995