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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
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
How many X-linked genes for non-specific mental retardation (MRX) are there?
Gedeon, A.
;
Donnelly, A.
;
Mulley, J.
;
Kerr, B.
;
Turner, G.
1998
Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1B
Wallace, R.
;
Wang, D.
;
Singh, R.
;
Scheffer, I.
;
George Jnr., A.
;
Phillips, H.
;
Saar, K.
;
Reis, A.
;
Johnson, E.
;
Sutherland, G.
;
Berkovic, S.
;
Mulley, J.
Discover
Author
3
Hollway, G.
3
Scheffer, I.
3
Sillence, D.
3
Turner, G.
2
Partington, M.
2
Reis, A.
2
Saar, K.
2
Singh, R.
2
Wilson, M.
1
Ades, L.
.
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Subject
22
Humans
16
Male
15
Female
13
X Chromosome
11
Genetic Linkage
11
Intellectual Disability
10
Pedigree
9
Chromosome Mapping
8
Molecular Sequence Data
6
Genetic Markers
.
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Date issued
1
2010 - 2011
25
1995 - 1999