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Issue Date
Title
Author(s)
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, 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.
1999
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Friend, K.
;
Crimmins, D.
;
Phan, T.
;
Sue, C.
;
Colley, A.
;
Fung, V.
;
Morris, J.
;
Sutherland, G.
;
Richards, R.
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.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
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.
2000
Cytochrome P450 4A, peroxisomal enzymes and nicotinamide cofactors in koala liver
Ngo, S.
;
Kong, S.
;
Kirlich, A.
;
McKinnon, R.
;
Stupans, I.
1995
Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome
Wilkie, A.
;
Slaney, S.
;
Oldridge, M.
;
Poole, M.
;
Ashworth, G.
;
Hockley, A.
;
Hayward, R.
;
David, D.
;
Pulleyn, L.
;
Rutland, P.
;
Malcolm, S.
;
Winter, R.
;
Reardon, W.
1996
Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)
Gibson, M.
;
Hatzinikolas, G.
;
Kumaratilake, J.
;
Sandberg, L.
;
Nicholl, J.
;
Sutherland, G.
;
Cleary, E.
Discover
Author
14
Gecz, J.
12
Sutherland, G.
11
et al.
11
Mulley, J.
9
Berkovic, S.
8
Scheffer, I.
6
Dibbens, L.
6
Gedeon, A.
6
Wallace, R.
5
Gardner, A.
.
next >
Subject
75
Molecular Sequence Data
67
Humans
56
Male
54
Animals
29
Base Sequence
29
Pedigree
28
Mutation
25
Sequence Homology, Amino Acid
24
Mice
15
Sequence Alignment
.
next >
Date issued
24
2010 - 2017
37
2000 - 2009
21
1995 - 1999