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Issue Date
Title
Author(s)
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
2004
Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activation
Yan, X.
;
Forbes, B.
;
McNeil, K.
;
Baxter, R.
;
Firth, S.
2011
Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing
Fasquelle, L.
;
Scott, H.
;
Lenoir, M.
;
Wang, J.
;
Rebillard, G.
;
Gaboyard, S.
;
Venteo, S.
;
Francois, F.
;
Masset-Bonnefont, A.
;
Antonarakis, S.
;
Neidhart, E.
;
Chabbert, C.
;
Puel, J.
;
Guipponi, M.
;
Delprat, B.
2013
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
Dibbens, L.
;
de Vries, B.
;
Donatello, S.
;
Heron, S.
;
Hodgson, B.
;
Chintawar, S.
;
Crompton, D.
;
Hughes, J.
;
Bellows, S.
;
Klein, K.
;
Callenbach, P.
;
Corbett, M.
;
Gardner, A.
;
Kivity, S.
;
Iona, X.
;
Regan, B.
;
Weller, C.
;
Crimmins, D.
;
O'Brien, T.
;
Guerrero-Lopez, R.
;
et al.
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.
2009
The structure of an interdomain complex that regulates talin activity
Goult, B.
;
Bate, N.
;
Anthis, N.
;
Wegener, K.
;
Gingras, A.
;
Patel, B.
;
Barsukov, I.
;
Campbell, I.
;
Roberts, G.
;
Critchley, D.
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.
2011
Contribution of serotype and genetic background to virulence of serotype 3 and serogroup 11 pneumococcal isolates
McAllister, L.
;
Ogunniyi, A.
;
Stroeher, U.
;
Leach, A.
;
Paton, J.
;
Camilli, A.
2013
Interplay between manganese and iron in pneumococcal pathogenesis: Role of the orphan response regulator ritR
Ong, C.
;
Potter, A.
;
Trappetti, C.
;
Walker, M.
;
Jennings, M.
;
Paton, J.
;
McEwan, A.
;
Payne, S.M.
Discover
Author
21
Paton, J.
11
Ogunniyi, A.
6
Stroeher, U.
4
Paton, A.
3
Corbett, M.
3
et al.
3
Gecz, J.
3
Mulley, J.
3
Trappetti, C.
3
Wang, H.
.
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Subject
41
Animals
22
Humans
18
Streptococcus pneumoniae
14
Bacterial Proteins
14
Female
14
Virulence
12
Molecular Sequence Data
11
Amino Acid Sequence
11
Gene Expression Regulation, Bacte...
10
Mice, Inbred BALB C
.
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