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Results 11-20 of 72 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2010
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes
Dibbens, L.
;
Reid, C.
;
Hodgson, B.
;
Thomas, E.
;
Phillips, A.
;
Gazina, E.
;
Cromer, B.
;
Clarke, A.
;
Barram, T.
;
Scheffer, I.
;
Berkovic, S.
;
Petrou, S.
2010
Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders
Hemsley, K.
;
Hopwood, J.
2010
Preface
Blackshaw, L.
;
Grundy, D.
2010
Chemical sensing and imaging with pulsed terahertz radiation
Walther, M.
;
Fischer, B.
;
Ortner, A.
;
Bitzer, A.
;
Thoman, A.
;
Helm, H.
2010
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes
Dimasi, D.
;
Chen, J.
;
Hewitt, A.
;
Klebe, S.
;
Davey, R.
;
Stirling, J.
;
Thompson, E.
;
Forbes, R.
;
Tan, T.
;
Savarirayan, R.
;
Mackey, D.
;
Healey, P.
;
Mitchell, P.
;
Burdon, K.
;
Craig, J.
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.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
Gecz, J.
2010
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination
Pearlman, A.
;
Loke, J.
;
Le Caignec, C.
;
White, S.
;
Chin, L.
;
Friedman, A.
;
Warr, N.
;
Willan, J.
;
Brauer, D.
;
Farmer, C.
;
Brooks, E.
;
Oddoux, C.
;
Riley, B.
;
Shajahan, S.
;
Camerino, G.
;
Homfray, T.
;
Crosby, A.
;
Couper, J.
;
David, A.
;
Greenfield, A.
;
et al.
2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
Tischfield, M.
;
Baris, H.
;
Wu, C.
;
Rudolph, G.
;
van Maldergem, L.
;
He, W.
;
Chan, W.
;
Andrews, C.
;
Demer, J.
;
Robertson, R.
;
Mackey, D.
;
Ruddle, J.
;
Bird, T.
;
Gottlob, I.
;
Pieh, C.
;
Traboulsi, E.
;
Pomeroy, S.
;
Hunter, D.
;
Soul, J.
;
Newlin, A.
;
et al.
Discover
Author
4
Gecz, J.
4
Gronthos, S.
3
Bartold, P.
3
et al.
3
Goodall, G.
3
Horowitz, M.
3
Ridding, M.
2
Barry, S.
2
Berkovic, S.
2
Blackshaw, L.
.
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Subject
29
Mice
21
Female
17
Male
10
Molecular Sequence Data
8
Cells, Cultured
7
Adult
7
Amino Acid Sequence
7
Disease Models, Animal
7
Mutation
6
Cell Line
.
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