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PreviewIssue DateTitleAuthor(s)
2015Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizuresYamamoto, 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.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, 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.
2013A tudor domain protein SPINDLIN1 interacts with the mRNA-binding protein SERBP1 and is involved in mouse oocyte meiotic resumptionChew, T.; Peaston, A.; Lim, A.; Lorthongpanich, C.; Knowles, B.; Solter, D.; Sun, Q.-Y.
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, 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.
2010GM-CSF is an essential regulator of T cell activation competence in uterine dendritic cells during early pregnancy in miceMoldenhauer, L.; Keenihan, S.; Hayball, J.; Robertson, S.
2013Characterization of mutants of a highly cross-reactive calcium-binding protein from Brassica pollen for allergen-specific immunotherapyGarmatiuk, 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.
2014The neuroprotective activity of the amyloid precursor protein against traumatic brain injury is mediated via the heparin binding site in residues 96-110Corrigan, F.; Thornton, E.; Roisman, L.; Leonard, A.; Vink, R.; Blumbergs, P.; Van Den Heuvel, C.; Cappai, R.
2015LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertilityLiu, 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.
2012Major effect of retinal short-chain dehydrogenase reductase (RDHE2) on bovine fat colourTian, R.; Cullen, N.; Morris, C.; Fisher, P.; Pitchford, W.; Bottema, C.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, 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.