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Issue Date
Title
Author(s)
2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
Cundy, T.
;
Hegde, M.
;
Naot, D.
;
Chong, B.
;
King, A.
;
Wallace, R.
;
Mulley, J.
;
Love, D.
;
Seidel, J.
;
Fawkner, M.
;
Banovic, T.
;
Callon, K.
;
Grey, A.
;
Reid, I.
;
Middleton-Hardie, C.
;
Cornish, J.
2004
Inhibition of generation of cytotoxic T lymphocyte activity by a CCL19/macrophage inflammatory protein (MIP)-3beta antagonist
Pilkington, K.
;
Clark-Lewis, I.
;
McColl, S.
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2001
The protein tyrosine phosphatase TCPTP suppresses the tumorigenicity of glioblastoma cells expressing a mutant epidermal growth factor receptor
Klingler-Hoffmann, M.
;
Fodero-Tavoletti, M.
;
Mishima, K.
;
Narita, Y.
;
Cavenee, W.
;
Furnari, F.
;
Huang, H.
;
Tiganis, T.
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.
2000
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Phillips, H.
;
Marini, C.
;
Scheffer, I.
;
Sutherland, G.
;
Mulley, J.
;
Berkovic, S.
2003
Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population
Nicholls, C.
;
Nelson, P.
;
Poplawski, N.
;
Chin, S.
;
Fong, B.
;
Solly, P.
;
Fietz, M.
;
Fletcher, J.
2001
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
Bell, R.
;
Brice, G.
;
Child, A.
;
Murday, V.
;
Mansour, S.
;
Sandy, C.
;
Collin, J.
;
Brady, A.
;
Callen, D.
;
Burnand, K.
;
Mortimer, P.
;
Jeffery, S.
2006
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
Berkovic, S.
;
Harkin, L.
;
McMahon, J.
;
Pelekanos, J.
;
Zuberi, S.
;
Wirrell, E.
;
Gill, D.
;
Iona, X.
;
Mulley, J.
;
Scheffer, I.
2009
Thioredoxin reductase is essential for protection of neisseria gonorrhoeae against killing by nitric oxide and for bacterial growth during interaction with cervical epithelial cells
Potter, A.
;
Kidd, S.
;
Edwards, J.
;
Falsetta, M.
;
Apicella, M.
;
Jennings, M.
;
McEwan, A.
Discover
Author
9
Mulley, J.
7
Scheffer, I.
6
Berkovic, S.
4
Sutherland, G.
3
Gecz, J.
3
Phillips, H.
3
Turner, G.
3
Wallace, R.
2
et al.
2
Gedeon, A.
.
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Subject
18
Humans
13
Male
10
Pedigree
7
Animals
7
Molecular Sequence Data
6
Adult
6
Amino Acid Sequence
6
DNA Mutational Analysis
6
Mice
5
Child
.
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2000