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Results 11-20 of 40 (Search time: 0.002 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.
2016Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of goutRasheed, H.; Phipps-Green, A.J.; Topless, R.; Smith, M.D.; Hill, C.; Lester, S.; Rischmueller, M.; Janssen, M.; Jansen, T.L.; Joosten, L.A.; Radstake, T.R.; Riches, P.L.; Tausche, A.K.; Lioté, F.; So, A.; Van Rij, A.; Jones, G.T.; McCormick, S.P.; Harrison, A.A.; Stamp, L.K.; et al.
2016Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid TumorsTorchia, J.; Golbourn, B.; Feng, S.; Ho, K.C.; Sin-Chan, P.; Vasiljevic, A.; Norman, J.D.; Guilhamon, P.; Garzia, L.; Agamez, N.R.; Lu, M.; Chan, T.S.; Picard, D.; de Antonellis, P.; Khuong-Quang, D.-A.; Planello, A.C.; Zeller, C.; Barsyte-Lovejoy, D.; Lafay-Cousin, L.; Letourneau, L.; et al.
2016Stillbirths: recall to action in high-income countriesFlenady, V.; Wojcieszek, A.; Middleton, P.; Ellwood, D.; Erwich, J.; Coory, M.; Khong, T.; Silver, R.; Smith, G.; Boyle, F.; Lawn, J.; Blencowe, H.; Leisher, S.; Gross, M.; Horey, D.; Farrales, L.; Bloomfield, F.; McCowan, L.; Brown, S.; Joseph, K.; et al.
2016Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulationGingras, M.; Chang, D.; Donehower, L.; Covington, K.; Gill, A.; Ittmann, M.; Creighton, C.; Johns, A.; Shinbrot, E.; Dewal, N.; Fisher, W.; Pilarsky, C.; Grützmann, R.; Overman, M.; Jamieson, N.; Van Buren, G.; Drummond, J.; Walker, K.; Hampton, O.; Xi, L.; et al.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2016A syntenic cross species aneuploidy genetic screen links RCAN1 expression to β-Cell mitochondrial dysfunction in type 2 diabetesPeiris, H.; Duffield, M.D.; Fadista, J.; Jessup, C.F.; Kashmir, V.; Genders, A.J.; McGee, S.L.; Martin, A.M.; Saiedi, M.; Morton, N.; Carter, R.; Cousin, M.A.; Kokotos, A.C.; Oskolkov, N.; Volkov, P.; Hough, T.A.; Fisher, E.M.C.; Tybulewicz, V.L.J.; Busciglio, J.; Coskun, P.E.; et al.; Scott, H.S.
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.
2016Pleistocene mitochondrial genomes suggest a single major dispersal of non-africans and a late glacial population turnover in EuropePosth, C.; Renaud, G.; Mittnik, A.; Drucker, D.; Rougier, H.; Cupillard, C.; Valentin, F.; Thevenet, C.; Furtwängler, A.; Wißing, C.; Francken, M.; Malina, M.; Bolus, M.; Lari, M.; Gigli, E.; Capecchi, G.; Crevecoeur, I.; Beauval, C.; Flas, D.; Germonpré, M.; et al.

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