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Results 1-10 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, M.
;
Berkovic, S.
;
Dibbens, L.
;
Oliver, K.
;
Maljevic, S.
;
Bayly, M.
;
Joensuu, T.
;
Canafoglia, L.
;
Franceschetti, S.
;
Michelucci, R.
;
Markkinen, S.
;
Heron, S.
;
Hildebrand, M.
;
Andermann, E.
;
Andermann, F.
;
Gambardella, A.
;
Tinuper, P.
;
Licchetta, L.
;
Scheffer, I.
;
Criscuolo, C.
;
et al.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2016
Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulation
Gingras, M.
;
Chang, D.
;
Donehower, L.
;
Covington, K.
;
Gill, A.
;
Ittmann, M.
;
Creighton, C.
;
Johns, A.
;
Shinbrot, E.
;
Dewal, N.
;
Fisher, W.
;
Pilarsky, C.
;
Grützmann, R.
;
Overman, M.
;
Jamieson, N.
;
Van Buren, G.
;
Drummond, J.
;
Walker, K.
;
Hampton, O.
;
Xi, L.
;
et al.
2013
Global sampling of plant roots expands the described molecular diversity of arbuscular mycorrhizal fungi
Opik, M.
;
Zobel, M.
;
Cantero, J.
;
Davison, J.
;
Facelli, J.
;
Hiiesalu, I.
;
Jairus, T.
;
Kalwij, J.
;
Koorem, K.
;
Leal, M.
;
Liira, J.
;
Metsis, M.
;
Neshtaeva, V.
;
Paal, J.
;
Phosri, C.
;
Polme, S.
;
Reier, U.
;
Saks, U.
;
Schimann, H.
;
Thiery, O.
;
et al.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
Khan, K.
;
Rudkin, A.
;
Parry, D.
;
Burdon, K.
;
McKibbin, M.
;
Logan, C.
;
Abdelhamed, Z.
;
Muecke, J.
;
Fernandez-Fuentes, N.
;
Laurie, K.
;
Shires, M.
;
Fogarty, R.
;
Carr, I.
;
Poulter, J.
;
Morgan, J.
;
Mohamed, M.
;
Jafri, H.
;
Raashid, Y.
;
Meng, N.
;
Piseth, H.
;
et al.
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
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.
2011
Chromosomal rearrangements maintain a polymorphic supergene controlling butterfly mimicry
Joron, M.
;
Frezal, L.
;
Jones, R.
;
Chamberlain, N.
;
Lee, S.
;
Haag, C.
;
Whibley, A.
;
Becuwe, M.
;
Baxter, S.
;
Ferguson, L.
;
Wilkinson, P.
;
Salazar, C.
;
Davidson, C.
;
Clark, R.
;
Quail, M.
;
Beasley, H.
;
Glithero, R.
;
Lloyd, C.
;
Sims, S.
;
Jones, M.
;
et al.
Discover
Author
3
Heron, S.
2
Dibbens, L.
2
Friend, K.
2
Gecz, J.
2
Hoischen, A.
2
Scheffer, I.
2
Wu, C.
1
Abdelhamed, Z.
1
Abe, S.
1
Adelson, D.
.
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Subject
9
Humans
8
Base Sequence
6
Animals
6
Male
6
Mutation
6
Pedigree
5
Amino Acid Sequence
5
Female
4
Genetic Predisposition to Disease
4
Mice
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