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Results 1-10 of 44 (Search time: 0.002 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.
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.
2003
RegR, a global LacI/GalR family regulator, modulates virulence and competence in Streptococcus pneumoniae
Chapuy-Regaud, S.
;
Ogunniyi, A.
;
Diallo, N.
;
Huet, Y.
;
Desnottes, J.
;
Paton, J.
;
Escaich, S.
;
Trombe, M.
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.
2005
Ancient DNA from the first European farmers in 7500-year-old Neolithic sites
Haak, W.
;
Forster, P.
;
Bramanti, B.
;
Matsumura, S.
;
Brandt, G.
;
Tanzer, M.
;
Villems, R.
;
Renfrew, C.
;
Gronenborn, D.
;
Alt, K.
;
Burger, J.
2005
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)
Wieland, I.
;
Reardon, W.
;
Jakubiczka, S.
;
Franco, B.
;
Kress, W.
;
Vincent-Delorme, C.
;
Theirry, P.
;
Edwards, M.
;
Konig, R.
;
Rusu, C.
;
Schweiger, S.
;
Thompson, E.
;
Tinschert, S.
;
Stewart, F.
;
Wieacker, P.
2001
Gene structure, alternative splicing, and chromosomal localization of pro-apoptotic Bcl-2 relative Bim
Bouillet, P.
;
Zhang, L.
;
Huang, D.
;
Webb, G.
;
Bottema, C.
;
Shore, P.
;
Eyre, H.
;
Sutherland, G.
;
Adams, J.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2003
Development of a diagnostic PCR assay that targets a heat-shock protein gene (groES) for detection of Pseudomonas spp. in cystic fibrosis patients
Clarke, L.
;
Moore, J.
;
Millar, B.
;
Garske, L.
;
Xu, J.
;
Heuzenroeder, M.
;
Crowe, M.
;
Elborn, J.
Discover
Author
13
Gecz, J.
8
et al.
7
Mulley, J.
7
Sutherland, G.
5
Edkins, S.
5
Scheffer, I.
5
Tarpey, P.
4
Berkovic, S.
4
Gedeon, A.
4
O'Meara, S.
.
next >
Subject
33
Female
27
Amino Acid Sequence
21
Base Sequence
18
Animals
17
Mutation
17
Pedigree
11
Sequence Homology, Amino Acid
10
DNA Mutational Analysis
10
Mice
10
Syndrome
.
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Date issued
4
2009
3
2008
6
2007
2
2006
3
2005
3
2004
8
2003
4
2002
7
2001
4
2000
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