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Results 31-40 of 52 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
1999
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
McDermott, M.
;
Aksentijevich, I.
;
Galon, J.
;
McDermott, E.
;
Ogunkolade, B.
;
Centola, M.
;
Mansfield, E.
;
Gadina, M.
;
Karenko, L.
;
Petterson, T.
;
McCarthy, J.
;
Frucht, D.
;
Aringer, M.
;
Torosyan, Y.
;
Teppo, A.M.
;
Wilson, M.
;
Karaarslan, H.
;
Wan, Y.
;
Todd, I.
;
Wood, G.
;
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.
2004
In the platypus a meiotic chain of ten sex chromosomes shares genes with the bird Z and mammal X chromosomes
Grutzner, F.
;
Rens, W.
;
Tsend-Ayush, E.
;
El-Mogharbel, N.
;
O'Brien, P.
;
Jones, R.
;
Ferguson-Smith, M.
;
Graves, J.
1996
A novel X-linked gene, G4.5. is responsible for Barth Syndrome
Bione, S.
;
D'Adamo, P.
;
Maestrini, E.
;
Gedeon, A.
;
Bolhuis, P.
;
Toniolo, D.
1996
Identification of the gene FMR2, associated with FRAXE mental retardation
Gecz, J.
;
Gedeon, A.
;
Sutherland, G.
;
Mulley, J.
1998
A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
Town, M.
;
Jean, G.
;
Cherqui, S.
;
Attard, M.
;
Forestier, L.
;
Whitmore, S.
;
Callen, D.
;
Gribouval, O.
;
Broyer, M.
;
Bates, G.
;
van't Hoff, W.
;
Antignac, C.
Discover
Author
12
Mulley, J.
7
Berkovic, S.
7
Sutherland, G.
6
Gecz, J.
6
Scheffer, I.
5
Gedeon, A.
4
Dibbens, L.
4
et al.
4
McColl, S.
4
Wallace, R.
.
next >
Subject
37
Humans
33
Animals
32
Amino Acid Sequence
30
Male
17
Base Sequence
17
Mutation
15
Mice
14
Pedigree
13
Sequence Homology, Amino Acid
10
Sequence Analysis, DNA
.
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Date issued
9
2010 - 2015
28
2000 - 2009
15
1996 - 1999