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Results 31-40 of 49 (Search time: 0.002 seconds).
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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.
2007
eneralized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function
Xu, R.
;
Thomas, E.
;
Gazina, E.
;
Richards, K.
;
Quick, M.
;
Wallace, R.
;
Harkin, L.
;
Heron, S.
;
Berkovic, S.
;
Scheffer, I.
;
Mulley, J.
;
Petrou, S.
2001
Fragile and unstable chromosomes in cancer: causes and consequences
Richards, R.
2009
ABC50 promotes translation initiation in mammalian cells
Wang, X.
;
Paytubi, S.
;
Lam, Y.
;
Izquierdo, L.
;
Hunter, M.
;
Jan, E.
;
Hundal, H.
;
Proud, C.
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.
2008
Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients
Butcher, C.
;
Hahn, U.
;
To, L.
;
Gecz, J.
;
Wilkins, E.
;
Scott, H.
;
Bardy, P.
;
D'Andrea, R.
2008
Re-evaluating the roles of proposed modulators of mammalian target of rapamycin complex 1 (mTORC1) signaling
Wang, X.
;
Fonseca, B.
;
Tang, H.
;
Liu, R.
;
Elia, A.
;
Clemens, M.
;
Bommer, U.
;
Proud, C.
Discover
Author
15
Mulley, J.
12
Scheffer, I.
11
Berkovic, S.
5
Gecz, J.
5
Heron, S.
4
Harkin, L.
4
Petrou, S.
4
Sutherland, G.
4
Wallace, R.
3
et al.
.
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Subject
20
Animals
18
Female
17
Molecular Sequence Data
15
Male
12
Amino Acid Sequence
12
Pedigree
11
Cell Line
11
DNA Mutational Analysis
11
Mice
10
Nerve Tissue Proteins
.
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Date issued
2
2009
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2007
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2006
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2005
4
2004
7
2003
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2002
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2001
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2000
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