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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.
2017Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingJansen, I.E.; Ye, H.; Heetveld, S.; Lechler, M.C.; Michels, H.; Seinstra, R.I.; Lubbe, S.J.; Drouet, V.; Lesage, S.; Majounie, E.; Gibbs, J.R.; Nalls, M.A.; Ryten, M.; Botia, J.A.; Vandrovcova, J.; Simon-Sanchez, J.; Castillo-Lizardo, M.; Rizzu, P.; Blauwendraat, C.; Chouhan, A.K.; et al.
2017Mapping complex traits in a diversity outbred f1 mouse population identifies germline modifiers of metastasis in human prostate cancerWinter, J.; Gildea, D.; Andreas, J.; Gatti, D.; Williams, K.; Lee, M.; Hu, Y.; Zhang, S.; Mullikin, J.; Wolfsberg, T.; McDonnell, S.; Fogarty, Z.; Larson, M.; French, A.; Schaid, D.; Thibodeau, S.; Churchill, G.; Crawford, N.
2017Sharing data to build a medical information commons: from Bermuda to the Global AllianceCook-Deegan, R.; Ankeny, R.A.; Jones, K.M.; Chakravarti, A.; Green, E.D.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017Mitochondrion to endoplasmic reticulum apposition length in zebrafish embryo spinal progenitors is unchanged in response to perturbations associated with Alzheimer’s diseaseNewman, M.; Halter, L.; Lim, A.; Lardelli, M.; Lakshmana, M.
2017A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repairBrickner, J.; Soll, J.; Lombardi, P.; Vågbø, C.; Mudge, M.; Oyeniran, C.; Rabe, R.; Jackson, J.; Sullender, M.; Blazosky, E.; Byrum, A.; Zhao, Y.; Corbett, M.; Gécz, J.; Field, M.; Vindigni, A.; Slupphaug, G.; Wolberger, C.; Mosammaparast, N.
2017Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemiaBanjar, H.; Ranasinghe, D.; Brown, F.; Adelson, D.; Kroger, T.; Leclercq, T.; White, D.; Hughes, T.; Chaudhri, N.; Speletas, M.
2017Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing dataYu, C.; Baune, B.; Licinio, J.; Wong, M.
2017Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyEwans, L.J.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M.E.; Cowley, M.J.; Buckley, M.F.; Scheffer, I.E.; Jackson, M.R.; Roscioli, T.; Shoubridge, C.

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