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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.
2016Hypertensive disorders of pregnancy, respiratory outcomes and atopy in childhoodShaheen, S.; Macdonald-Wallis, C.; Lawlor, D.; Henderson, A.
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.
2016Characterization of leukemias with ETV6-ABL1 fusionZaliova, M.; Moorman, A.V.; Cazzaniga, G.; Stanulla, M.; Harvey, R.C.; Roberts, K.G.; Heatley, S.L.; Loh, M.L.; Konopleva, M.; Chen, I.M.; Zimmermannova, O.; Schwab, C.; Smith, O.; Mozziconacci, M.J.; Chabannon, C.; Kim, M.; Frederik Falkenburg, J.H.; Norton, A.; Marshall, K.; Haas, O.A.; et al.; Annual Meeting of the American-Society-of-Hematology (5 Dec 2015 - 8 Dec 2015 : Orlando, FL)
2016Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyCorbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.
2016Diagnosis and etiology of congenital muscular dystrophy: We are halfway thereO'Grady, G.L.; Lek, M.; Lamande, S.R.; Waddell, L.; Oates, E.C.; Punetha, J.; Ghaoui, R.; Sandaradura, S.A.; Best, H.; Kaur, S.; Davis, M.; Laing, N.G.; Muntoni, F.; Hoffman, E.; MacArthur, D.G.; Clarke, N.F.; Cooper, S.; North, K.

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