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Issue Date
Title
Author(s)
2004
Interleukin 18 receptor
Sergi, B.
;
Penttila, I.
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.
2002
Location and structure of the human FHR-5 gene
McRae, J.
;
Murphy, B.
;
Eyre, H.
;
Sutherland, G.
;
Crawford, J.
;
Cowan, P.
2000
Cloning, expression and chromosomal localization of a novel human dipeptidyl peptidase (DDP) IV homolog, DPP8
Abbott, C.
;
Yu, D.
;
Woollatt, E.
;
Sutherland, G.
;
McCaughan, G.
;
Gorrell, M.
2001
HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers
Young, J.
;
Biden, K.
;
Simms, L.
;
Huggard, P.
;
Karamatic, R.
;
Eyre, H.
;
Sutherland, G.
;
Herath, N.
;
Barker, M.
;
Anderson, G.
;
Fitzpatrick, D.
;
Ramm, G.
;
Jass, J.
;
Leggett, B.
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.
2004
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A
Muschol, N.
;
Storch, S.
;
Balhausen, D.
;
Beesley, C.
;
Westermann, J.
;
Gal, A.
;
Ullrich, K.
;
Hopwood, J.
;
Winchester, B.
;
Braulke, T.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
Discover
Author
19
Gecz, J.
14
Sutherland, G.
10
et al.
10
Eyre, H.
9
Hopwood, J.
7
Ropers, H.
6
Fryns, J.
6
Kalscheuer, V.
5
Chelly, J.
5
Moraine, C.
.
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Subject
53
Humans
34
Amino Acid Sequence
28
Base Sequence
23
Animals
23
Male
21
Female
18
Mutation
17
Mice
16
Pedigree
14
Sequence Homology, Amino Acid
.
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Date issued
4
2009
3
2008
5
2007
2
2006
1
2005
13
2004
8
2003
6
2002
9
2001
7
2000
.
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