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Results 21-30 of 48 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2021PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesGuimier, A.; Achleitner, M.T.; Moreau de Bellaing, A.; Edwards, M.; de Pontual, L.; Mittal, K.; Dunn, K.E.; Grove, M.E.; Tysoe, C.J.; Dimartino, C.; Cameron, J.; Kanthi, A.; Shukla, A.; van den Broek, F.; Chatterjee, D.; Alston, C.L.; Knowles, C.V.; Brett, L.; Till, J.A.; Homfray, T.; et al.
2023Real World Impact of 13vPCV in Preventing Invasive Pneumococcal Pneumonia in Australian Children: A National StudyHomaira, N.; Strachan, R.; Quinn, H.; Beggs, S.; Bhuiyan, M.; Bowen, A.; Fawcett, L.K.; gilbert, L.; Lambert, S.B.; Macartney, K.; Marshall, H.S.; Martin, A.C.; McCallum, G.; McCullagh, A.; McDonald, T.; Selvadurai, H.; McIntyre, P.; Oftadeh, S.; Ranganathan, S.; Saunders, T.; et al.
2022Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemiaKimura, S.; Montefiori, L.; Iacobucci, I.; Zhao, Y.; Gao, Q.; Paietta, E.M.; Haferlach, C.; Laird, A.D.; Mead, P.E.; Gu, Z.; Stock, W.; Litzow, M.R.; Rowe, J.M.; Luger, S.M.; Hunger, S.P.; Ryland, G.; Schmidt, B.M.; Ekert, P.G.; Oshlack, A.; Grimmond, S.; et al.
2022The need for a roadmap to guide actions for Aboriginal and Torres Strait Islander adolescent health: youth governance as an essential foundationWesthead, S.; Appleby, Q.; Andrews, B.; Brodie, T.; Brown, A.; Canuto, K.; Cooke, J.; Garay, M.; Harrington, T.; Hunter, D.; Kennedy, C.; Lenoy, J.; Lester, O.; McCleary, H.; Pearson, O.; Randall, L.; Reilly, R.; Rose, H.; Rosendale, D.; Telfer, J.; et al.
2020Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancerWong, M.; Mayoh, C.; Lau, L.M.S.; Khuong-Quang, D.-A.; Pinese, M.; Kumar, A.; Barahona, P.; Wilkie, E.E.; Sullivan, P.; Bowen-James, R.; Syed, M.; Martincorena, I.; Abascal, F.; Sherstyuk, A.; Bolanos, N.A.; Baber, J.; Priestley, P.; Dolman, M.E.M.; Fleuren, E.D.G.; Gauthier, M.-E.; et al.
2021Improve in-depth immunological risk assessment to optimize genetic-compatibility and clinical outcomes in child and adolescent recipients of parental donor kidney transplants: protocol for the INCEPTION studyLim, W.H.; Adams, B.; Alexander, S.; Bouts, A.H.M.; Claas, F.; Collins, M.; Cornelissen, E.; Dunckley, H.; de Jong, H.; D’Orsogna, L.; Francis, A.; Heidt, S.; Herman, J.; Holdsworth, R.; Kausman, J.; Khalid, R.; Kim, J.J.; Kim, S.; Knops, N.; Kosmoliaptsis, V.; et al.
2022Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsBournazos, A.M.; Riley, L.G.; Bommireddipalli, S.; Ades, L.; Akesson, L.S.; Al-Shinnag, M.; Alexander, S.I.; Archibald, A.D.; Balasubramaniam, S.; Berman, Y.; Beshay, V.; Boggs, K.; Bojadzieva, J.; Brown, N.J.; Bryen, S.J.; Buckley, M.F.; Chong, B.; Davis, M.R.; Dawes, R.; Delatycki, M.; et al.
2019A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiencyVolpi, S.; Cicalese, M.P.; Tuijnenburg, P.; Tool, A.T.J.; Cuadrado, E.; Abu-Halaweh, M.; Ahanchian, H.; Alzyoud, R.; Akdemir, Z.C.; Barzaghi, F.; Blank, A.; Boisson, B.; Bottino, C.; Brigida, I.; Caorsi, R.; Casanova, J.L.; Chiesa, S.; Chinn, I.K.; Dückers, G.; Enders, A.; et al.
2022Suboptimal glycemic control in adolescents and young adults with type 1 diabetes from 2011 to 2020 across Australia and New Zealand: Data from the Australasian Diabetes Data Network registryJames, S.; Perry, L.; Lowe, J.; Harris, M.; Craig, M.E.; Anderson, K.; Andrikopoulos, S.; Ambler, G.; Barrett, H.; Batch, J.; Bergman, P.; Cameron, F.; Colman, P.; Conwell, L.; Cotterill, A.; Cooper, C.; Couper, J.; Davis, E.; de Bock, M.; Donaghue, K.; et al.
2022Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisCabrera-Serrano, M.; Caccavelli, L.; Savarese, M.; Vihola, A.; Jokela, M.; Johari, M.; Capiod, T.; Madrange, M.; Bugiardini, E.; Brady, S.; Quinlivan, R.; Merve, A.; Scalco, R.; Hilton-Jones, D.; Houlden, H.; Aydin, H.I.; Ceylaner, S.; Drewes, S.; Vockley, J.; Taylor, R.L.; et al.

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