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Results 21-30 of 39 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2010Hundreds of variants clustered in genomic loci and biological pathways affect human heightAllen, H.; Estrada, K.; Lettre, G.; Berndt, S.; Weedon, M.; Rivadeneira, F.; Willer, C.; Jackson, A.; Vedantam, S.; Raychaudhuri, S.; Ferreira, T.; Wood, A.; Weyant, R.; Segre, A.; Speliotes, E.; Wheeler, E.; Soranzo, N.; Park, J.-H.; Yang, J.; Gudbjartsson, D.; 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.
2011Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucomaKhan, K.; Rudkin, A.; Parry, D.; Burdon, K.; McKibbin, M.; Logan, C.; Abdelhamed, Z.; Muecke, J.; Fernandez-Fuentes, N.; Laurie, K.; Shires, M.; Fogarty, R.; Carr, I.; Poulter, J.; Morgan, J.; Mohamed, M.; Jafri, H.; Raashid, Y.; Meng, N.; Piseth, H.; et al.
2011Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1Burdon, K.; MacGregor, S.; Hewitt, A.; Sharma, S.; Chidlow, G.; Mills, R.; Danoy, P.; Casson, R.; Viswanathan, A.; Liu, J.; Landers, J.; Henders, A.; Wood, J.; Souzeau, E.; Crawford, A.; Leo, P.; Wang, J.; Rochtchina, E.; Nyholt, D.; Martin, N.; et al.
2011Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemiaHahn, C.; Chong, C.; Carmichael, C.; Wilkins, E.; Brautigan, P.; Li, X.; Babic, M.; Lin, M.; Carmagnac, A.; Lee, Y.; Kok, C.; Gagliardi, L.; Friend, K.; Ekert, P.; Butcher, C.; Brown, A.; Lewis, I.; To, L.; Timms, A.; Storek, J.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.