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Results 1-10 of 76 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2008
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform
Sharma, S.
;
Burdon, K.
;
Dave, A.
;
Jamieson, R.
;
Yaron, Y.
;
Billson, F.
;
van Maldergem, L.
;
Lorenz, B.
;
Gecz, J.
;
Craig, 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.
2004
Inhibition of generation of cytotoxic T lymphocyte activity by a CCL19/macrophage inflammatory protein (MIP)-3beta antagonist
Pilkington, K.
;
Clark-Lewis, I.
;
McColl, S.
2002
Asparagine hydroxylation of the HIF transactivation domain: A hypoxic switch
Lando, D.
;
Peet, D.
;
Whelan, D.
;
Gorman, J.
;
Whitelaw, M.
2005
Cytoplasmic ATP-sensing domains regulate gating of skeletal muscle ClC-1 chloride channels
Bennetts, B.
;
Rychkov, G.
;
Ng, H.
;
Morton, C.
;
Stapleton, D.
;
Parker, M.
;
Cromer, B.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2007
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Tarpey, P.
;
Raymond, F.
;
Nguyen, L.
;
Rodriguez, J.
;
Hackett, A.
;
Vandeleur, L.
;
Smith, R.
;
Shoubridge, C.
;
Edkins, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Hills, K.
;
Jones, D.
;
Mironenko, T.
;
Perry, J.
;
et al.
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.
2005
SCN1A mutations and epiliepsy
Mulley, J.
;
Scheffer, I.
;
Petrou, S.
;
Dibbens, L.
;
Berkovic, S.
;
Harkin, L.
Discover
Author
23
Gecz, J.
17
et al.
10
Mulley, J.
7
Berkovic, S.
6
Corbett, M.
6
Gedeon, A.
6
Scheffer, I.
6
Sutherland, G.
6
Tarpey, P.
5
Dibbens, L.
.
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Subject
53
Amino Acid Sequence
38
Animals
33
Base Sequence
33
Female
33
Male
28
Pedigree
22
Mice
16
Sequence Homology, Amino Acid
13
Mental Retardation, X-Linked
12
DNA Mutational Analysis
.
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Date issued
24
2010 - 2016
40
2000 - 2009
12
1995 - 1999