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Results 1-10 of 24 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2014Aberrant GDF9 expression and activation are associated with common human ovarian disordersSimpson, C.; Robertson, D.; Al-Musawi, S.; Heath, D.; McNatty, K.; Ritter, L.; Mottershead, D.; Gilchrist, R.; Harrison, C.; Stanton, P.
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.
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.
2015Rice SPX-Major Facility Superfamily3, a vacuolar phosphate efflux transporter, is involved in maintaining phosphate homeostasis in riceWang, C.; Yue, W.; Ying, Y.; Wang, S.; Secco, D.; Liu, Y.; Whelan, J.; Tyerman, S.; Shou, H.
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.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
2013A label-free selected reaction monitoring workflow identifies a subset of pregnancy specific glycoproteins as potential predictive markers of early-onset pre-eclampsiaBlankley, R.; Fisher, C.; Westwood, M.; North, R.; Baker, P.; Walker, M.; Williamson, A.; Whetton, A.; Lin, W.; McCowan, L.; Roberts, C.; Cooper, G.; Unwin, R.; Myers, J.
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.

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