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Results 11-20 of 31 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2016Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignanciesLewinsohn, M.; Brown, A.L.; Weinel, L.M.; Phung, C.; Rafidi, G.; Lee, M.K.; Schreiber, A.W.; Feng, J.; Babic, M.; Chong, C.E.; Lee, Y.; Yong, A.; Suthers, G.K.; Poplawski, N.; Altree, M.; Phillips, K.; Jaensch, L.; Fine, M.; D'Andrea, R.J.; Lewis, I.D.; et al.
2014Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on Body Mass IndexHoggart, C.; Venturini, G.; Mangino, M.; Gomez, F.; Ascari, G.; Zhao, J.; Teumer, A.; Winkler, T.; Tšernikova, N.; Luan, J.; Mihailov, E.; Ehret, G.; Zhang, W.; Lamparter, D.; Esko, T.; Macé, A.; Rüeger, S.; Bochud, P.; Barcella, M.; Dauvilliers, Y.; et al.; Visscher, 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.
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.
2010Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studiesElks, C.; Perry, J.; Sulem, P.; Chasman, D.; Franceschini, N.; He, C.; Lunetta, K.; Visser, J.; Byrne, E.; Cousminer, D.; Gudbjartsson, D.; Esko, T.; Feenstra, B.; Hottenga, J.; Koller, D.; Kutalik, Z.; Lin, P.; Mangino, M.; Marongiu, M.; McArdle, P.; et al.
2011A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaYokoyama, S.; Woods, S.; Boyle, G.; Aoude, L.; MacGregor, S.; Zismann, V.; Gartside, M.; Cust, A.; Haq, R.; Harland, M.; Taylor, J.; Duffy, D.; Holohan, K.; Dutton-Regester, K.; Palmer, J.; Bonazzi, V.; Stark, M.; Symmons, J.; Law, M.; Schmidt, C.; et al.
2014Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanomaAoude, L.; Pritchard, A.; Robles-Espinoza, C.; Wadt, K.; Harland, M.; Choi, J.; Gartside, M.; Quesada, V.; Johansson, P.; Palmer, J.; Ramsay, A.; Zhang, X.; Jones, K.; Symmons, J.; Holland, E.; Schmid, H.; Bonazzi, V.; Woods, S.; Dutton-Regester, K.; Stark, M.; et al.
2010Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weightFreathy, R.; Mook-Kanamori, D.; Sovio, U.; Prokopenko, I.; Timpson, N.; Berry, D.; Warrington, N.; Widen, E.; Jan Hottenga, J.; Kaakinen, M.; Lange, L.; Bradfield, J.; Kerkhof, M.; Marsh, J.; Mägi, R.; Chen, C.-M.; Lyon, H.; Kirin, M.; Adair, L.; Aulchenko, Y.; et al.
2011A genome-wide significant linkage for severe depression on chromosome 3: the depression network studyBreen, G.; Webb, B.; Butler, A.; van den Oord, E.; Tozzi, F.; Craddock, N.; Gill, M.; Korszun, A.; Maier, W.; Middleton, L.; Mors, O.; Owen, M.; Cohen-Woods, S.; Perry, J.; Galwey, N.; Upmanyu, R.; Craig, I.; Lewis, C.; Ng, M.; Brewster, S.; et al.
2016Multiplex families with epilepsy: success of clinical and molecular genetic characterizationAfawi, Z.; Oliver, K.L.; Kivity, S.; Mazarib, A.; Blatt, I.; Neufeld, M.Y.; Helbig, K.L.; Goldberg-Stern, H.; Misk, A.J.; Straussberg, R.; Walid, S.; Mahajnah, M.; Lerman-Sagie, T.; Ben-Zeev, B.; Kahana, E.; Masalha, R.; Kramer, U.; Ekstein, D.; Shorer, Z.; Wallace, R.H.; et al.