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Results 1-10 of 21 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
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.
2013
A tudor domain protein SPINDLIN1 interacts with the mRNA-binding protein SERBP1 and is involved in mouse oocyte meiotic resumption
Chew, T.
;
Peaston, A.
;
Lim, A.
;
Lorthongpanich, C.
;
Knowles, B.
;
Solter, D.
;
Sun, Q.-Y.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2010
GM-CSF is an essential regulator of T cell activation competence in uterine dendritic cells during early pregnancy in mice
Moldenhauer, L.
;
Keenihan, S.
;
Hayball, J.
;
Robertson, S.
2013
Characterization of mutants of a highly cross-reactive calcium-binding protein from Brassica pollen for allergen-specific immunotherapy
Garmatiuk, T.
;
Swoboda, I.
;
Twardosz-Kropfmüller, A.
;
Dall’Antonia, F.
;
Keller, W.
;
Singh, M.B.
;
Bhalla, P.L.
;
Okada, T.
;
Toriyama, K.
;
Weber, M.
;
Ghannadan, M.
;
Sperr, W.R.
;
Blatt, K.
;
Valent, P.
;
Klein, B.
;
Niederberger, V.
;
Curin, M.
;
Balic, N.
;
Spitzauer, S.
;
Valenta, R.
2012
Major effect of retinal short-chain dehydrogenase reductase (RDHE2) on bovine fat colour
Tian, R.
;
Cullen, N.
;
Morris, C.
;
Fisher, P.
;
Pitchford, W.
;
Bottema, C.
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.
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.
Discover
Author
5
et al.
5
Gecz, J.
3
Corbett, M.
3
Dibbens, L.
3
Gardner, A.
2
Bahlo, M.
2
Baxter, S.
2
Berkovic, S.
2
Friend, K.
2
Hickey, T.
.
next >
Subject
15
Humans
14
Animals
13
Amino Acid Sequence
11
Mutation
7
Base Sequence
6
Mice
6
Pedigree
6
Polymorphism, Single Nucleotide
5
Sequence Analysis, DNA
4
Adult
.
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