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Results 1-10 of 19 (Search time: 0.004 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.
1997
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
Wicking, C.
;
Shanley, S.
;
Smyth, I.
;
Gillies, S.
;
Negus, K.
;
Graham, S.
;
Suthers, G.
;
Haites, N.
;
Edwards, M.
;
Wainwright, B.
;
Chenevix Trench, G.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
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.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
1995
Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A.
;
Slaney, S.
;
Oldridge, M.
;
Poole, M.
;
Ashworth, G.
;
Hockley, A.
;
Hayward, R.
;
David, D.
;
Pulleyn, L.
;
Rutland, P.
;
Malcolm, S.
;
Winter, R.
;
Reardon, W.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Gedeon, A.
;
Tiller, G.
;
Le Merrer, M.
;
Heuertz, S.
;
Tranebjaerg, L.
;
Chitayat, D.
;
Robertson, S.
;
Glass, I.
;
Savarirayan, R.
;
Cole, W.
;
Rimoin, D.
;
Kousseff, B.
;
Ohashi, H.
;
Zabel, B.
;
Munnich, A.
;
Gecz, J.
;
Mulley, J.
Discover
Author
6
Gecz, J.
4
Mulley, J.
4
Sutherland, G.
3
Dibbens, L.
3
Gedeon, A.
3
Haan, E.
2
Ades, L.
2
Berkovic, S.
2
et al.
2
Eyre, H.
.
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Subject
19
Humans
13
Female
12
Amino Acid Sequence
10
Base Sequence
10
Pedigree
8
Mutation
7
DNA Mutational Analysis
7
RNA, Messenger
6
Polymorphism, Single-Stranded Con...
6
Sequence Homology, Amino Acid
.
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Date issued
3
2010 - 2015
7
2000 - 2009
9
1995 - 1999