1. Adelaide Research & Scholarship

Search


Current filters:




Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-6 of 6 (Search time: 0.001 seconds).
  • previous
  • 1
  • next
Item hits:
PreviewIssue DateTitleAuthor(s)
2020Coronavirus disease 2019 in patients with inborn errors of immunity: an international studyMeyts, I.; Bucciol, G.; Quinti, I.; Neven, B.; Fischer, A.; Seoane, E.; Lopez-Granados, E.; Gianelli, C.; Robles-Marhuenda, A.; Jeandel, P.Y.; Paillard, C.; Sankaran, V.G.; Demirdag, Y.Y.; Lougaris, V.; Aiuti, A.; Plebani, A.; Milito, C.; Dalm, V.A.; Guevara-Hoyer, K.; Sánchez-Ramón, S.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2020Genome sequencing in persistently unsolved white matter disordersHelman, G.; Lajoie, B.R.; Crawford, J.; Takanohashi, A.; Walkiewicz, M.; Dolzhenko, E.; Gross, A.M.; Gainullin, V.G.; Bent, S.J.; Jenkinson, E.M.; Ferdinandusse, S.; Waterham, H.R.; Dorboz, I.; Bertini, E.; Miyake, N.; Wolf, N.I.; Abbink, T.E.M.; Kirwin, S.M.; Tan, C.M.; Hobson, G.M.; et al.
2020Global age-sex-specific fertility, mortality, healthy life expectancy (HALE), and population estimates in 204 countries and territories, 1950–2019: a comprehensive demographic analysis for the Global Burden of Disease Study 2019Wang, H.; Abbas, K.M.; Abbasifard, M.; Abbasi-Kangevari, M.; Abbastabar, H.; Abd-Allah, F.; Abdelalim, A.; Abolhassani, H.; Abreu, L.G.; Abrigo, M.R.M.; Abushouk, A.I.; Adabi, M.; Adair, T.; Adebayo, O.M.; Adedeji, I.A.; Adekanmbi, V.; Adeoye, A.M.; Adetokunboh, O.O.; Advani, S.M.; Afshin, A.; 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.
2021Diagnostic yield of whole genome sequencing after non-diagnostic exome sequencing or gene panel in developmental and epileptic encephalopathiesPalmer, E.E.; Sachdev, R.; Macintosh, R.; Genetic Counselling, G.D.; Melo, U.S.; Mundlos, S.; Righetti, S.; Kandula, T.; Minoche, A.E.; Puttick, C.; Gayevskiy, V.; Hesson, L.; Idrisoglu, S.; Shoubridge, C.; Thai, M.H.N.; Davis, R.L.; Drew, A.P.; Sampaio, H.; Andrews, P.I.; Lawson, J.; et al.

Discover