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Issue Date
Title
Author(s)
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.
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.
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.
1996
bcl-w, a novel member of the bcl-2 family, promotes cell survival
Gibson, L.
;
Holmgreen, S.
;
Huang, D.
;
Bernand, O.
;
Copeland, N.
;
Jenkins, N.
;
Sutherland, G.
;
Baker, E.
;
Adams, J.
;
Cory, S.
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.
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.
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.
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.
Discover
Author
18
Gecz, J.
14
Mulley, J.
14
Sutherland, G.
13
et al.
9
Berkovic, S.
9
Scheffer, I.
7
Gedeon, A.
6
Wallace, R.
5
Dibbens, L.
5
Gardner, A.
.
next >
Subject
45
Amino Acid Sequence
35
Pedigree
34
Base Sequence
28
Animals
27
Mutation
17
Sequence Homology, Amino Acid
15
DNA Mutational Analysis
14
Adult
14
Syndrome
13
Child
.
next >
Date issued
15
2010 - 2015
33
2000 - 2009
22
1995 - 1999