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Results 1-10 of 30 (Search time: 0.006 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.
2014
The neuroprotective activity of the amyloid precursor protein against traumatic brain injury is mediated via the heparin binding site in residues 96-110
Corrigan, F.
;
Thornton, E.
;
Roisman, L.
;
Leonard, A.
;
Vink, R.
;
Blumbergs, P.
;
Van Den Heuvel, C.
;
Cappai, R.
2015
LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility
Liu, Y.
;
DeBoer, K.
;
de Kretser, D.
;
O Donnell, L.
;
O Connor, A.
;
Merriner, D.
;
Okuda, H.
;
Whittle, B.
;
Jans, D.
;
Efthymiadis, A.
;
McLachlan, R.
;
Ormandy, C.
;
Goodnow, C.
;
Jamsai, D.
;
O Bryan, M.
;
Yan, W.
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.
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.
Discover
Author
6
et al.
6
Gecz, J.
4
Corbett, M.
4
Gardner, A.
3
Dibbens, L.
2
Afawi, Z.
2
Bahlo, M.
2
Baxter, S.
2
Berkovic, S.
2
Buchanan, G.
.
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Subject
21
Female
21
Humans
20
Animals
17
Amino Acid Sequence
12
Mutation
9
Base Sequence
9
Mice
7
Pedigree
7
Sequence Analysis, DNA
6
Adult
.
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