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Results 1-10 of 18 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2016Cohort Profile: Melbourne Atopy Cohort study (MACS)Lowe, A.; Lodge, C.; Allen, K.; Abramson, M.; Matheson, M.; Thomas, P.; Barton, C.; Bennett, C.; Erbas, B.; Svanes, C.; Wjst, M.; Real, F.; Perret, J.; Russell, M.; Southey, M.; Hopper, J.; Gurrin, L.; Axelrad, C.; Hill, D.; Dharmage, S.
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.
2016Pachyonychia Congenita: a spectrum of KRT6a mutations in Australian patientsForrest, C.; Casey, G.; Mordaunt, D.; Thompson, E.; Gordon, L.
2016Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disordersMoey, C.; Hinze, S.; Brueton, L.; Morton, J.; McMullan, D.; Kamien, B.; Barnett, C.; Brunetti-Pierri, N.; Nicholl, J.; Gecz, J.; Shoubridge, C.
2016Health in times of uncertainty in the eastern Mediterranean region, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013Mokdad, A.; Forouzanfar, M.; Daoud, F.; El Bcheraoui, C.; Moradi-Lakeh, M.; Khalil, I.; Afshin, A.; Tuffaha, M.; Charara, R.; Barber, R.; Wagner, J.; Cercy, K.; Kravitz, H.; Coates, M.; Robinson, M.; Estep, K.; Steiner, C.; Jaber, S.; Mokdad, A.; O'Rourke, K.; et al.
2016Integration of genetic and clinical risk factors improves prognostication in relapsed childhood B-cell precursor acute lymphoblastic leukemiaIrving, J.; Enshaei, A.; Parker, C.; Sutton, R.; Kuiper, R.; Erhorn, A.; Minto, L.; Venn, N.; Law, T.; Yu, J.; Schwab, C.; Davies, R.; Matheson, E.; Davies, A.; Sonneveld, E.; Den Boer, M.; Love, S.; Harrison, C.; Hoogerbrugge, P.; Revesz, T.; et al.
2016Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Rigbye, K.; van Hasselt, P.; Burgess, R.; Damiano, J.; Mullen, S.; Petrovski, S.; Puranam, R.; van Gassen, K.; Gecz, J.; Scheffer, I.; McNamara, J.; Berkovic, S.; Hildebrand, M.
2016Prenatal and familial factors of caries in first permanent molars in schoolchildren living in urban area of Łódź, PolandBorowska-Strugińska, B.; Żądzińska, E.; Bruzda-Zwiech, A.; Filipińska, R.; Lubowiecka-Gontarek, B.; Szydłowska-Walendowska, B.; Wochna-Sobańska, M.
2016Brain volumes at term-equivalent age are associated with 2-year neurodevelopment in moderate and late preterm childrenCheong, J.L.Y.; Thompson, D.K.; Spittle, A.J.; Potter, C.R.; Walsh, J.M.; Burnett, A.C.; Lee, K.J.; Chen, J.; Beare, R.; Matthews, L.G.; Hunt, R.W.; Anderson, P.J.; Doyle, L.W.

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