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Issue Date
Title
Author(s)
2001
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
Phillips, H.
;
Favre, I.
;
Kirkpatrick, M.
;
Zuberi, S.
;
Goudie, D.
;
Heron, S.
;
Scheffer, I.
;
Sutherland, G.
;
Berkovic, S.
;
Bertrand, D.
;
Mulley, J.
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.
2001
Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
Wallace, R.
;
Scheffer, I.
;
Barnett, S.
;
Richards, M.
;
Dibbens, L.
;
Desai, R.
;
Lerman-Sagie, T.
;
Lev, D.
;
Mazarib, A.
;
Brand, N.
;
Ben-Zeev, B.
;
Goikhman, I.
;
Singh, R.
;
Kremmidiotis, G.
;
Gardner, A.
;
Sutherland, G.
;
George Jr., A.
;
Mulley, J.
;
Berkovic, S.
2006
Production and characterization of monoclonal antibodies against insulin-like growth factor type 1 receptor
Keyhanfar, M.
;
Forbes, B.
;
Cosgrove, L.
;
Wallace, J.
;
Booker, G.
2007
DMRT gene cluster analysis in the platypus: New insights into genomic organization and regulatory regions
El-Mogharbel, N.
;
Wakefield, M.
;
Deakin, J.
;
Tsend-Ayush, E.
;
Grutzner, F.
;
Alsop, A.
;
Ezaz, T.
;
Graves, J.
2001
Nucleotide sequence of the mouse VEGF 3'UTR and quantitative analysis of sites of polyadenylation
Dibbens, J.
;
Polyak, S.
;
Damert, A.
;
Risau, W.
;
Vadas, M.
;
Goodall, G.
2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome
Lower, K.
;
Turner, G.
;
Kerr, B.
;
Mathews, K.
;
Shaw, M.
;
Gedeon, A.
;
Schelley, S.
;
Hoyme, H.
;
White, S.
;
Delatycki, M.
;
Lampe, A.
;
Clayton-Smith, J.
;
Stewart, H.
;
van Ravenswaay, C.
;
de Vries, B.
;
Cox, B.
;
Grompe, M.
;
Ross, S.
;
Thomas, P.
;
Mulley, J.
;
et al.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
Gecz, J.
2003
Role of nuclear and cytoplasmic localization in the tumour-suppressor activity of the von Hippel-Lindau protein
Lewis, M.
;
Roberts, B.
2007
Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity
Voss, A.
;
Gamble, R.
;
Collin, C.
;
Shoubridge, C.
;
Corbett, M.
;
Gecz, J.
;
Thomas, T.
Discover
Author
9
Mulley, J.
8
Whitelaw, M.
7
Forbes, B.
7
Paton, J.
6
Berkovic, S.
6
Paton, A.
5
Dibbens, L.
5
Gecz, J.
5
Peet, D.
5
Scheffer, I.
.
next >
Subject
65
Amino Acid Sequence
63
Animals
37
Mice
34
Base Sequence
25
Sequence Homology, Amino Acid
22
Mutation
21
Female
16
Male
16
Protein Structure, Tertiary
16
Sequence Alignment
.
next >
Date issued
16
2010 - 2014
80
2000 - 2009