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Results 1-10 of 24 (Search time: 0.002 seconds).
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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.
2021Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, D.; Hahn, C.N.; Feurstein, S.; Wee, L.Y.A.; Moma, L.; Kutyna, M.M.; Chhetri, R.; Eshraghi, L.; Schreiber, A.W.; Feng, J.; Wang, P.P.-S.; Babic, M.; Parker, W.T.; Gao, S.; Moore, S.; Das, S.; Thomas, D.; Pattnaik, S.; Brown, A.L.; D'Andrea, R.J.; 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.
2023Transnasal Humidified Rapid Insufflation Ventilatory Exchange in children requiring emergent intubation (Kids THRIVE): a statistical analysis plan for a randomised controlled trialGeorge, S.; Gibbons, K.; Williams, T.; Humphreys, S.; Gelbart, B.; Le Marsney, R.; Craig, S.; Tingay, D.; Chavan, A.; Schibler, A.; Cronin, J.; Pearson, K.; Rasmussen, K.; Acworth, J.; Hickey, L.; Delzoppo, C.; Perkins, E.; Oberender, F.; Waghorn, J.; McCahill, C.; 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.
2021Advanced glycation end products as predictors of renal function in youth with type 1 diabetesForbes, J.M.; Le Bagge, S.; Righi, S.; Fotheringham, A.K.; Gallo, L.A.; McCarthy, D.A.; Leung, S.; Baskerville, T.; Nisbett, J.; Morton, A.; Teasdale, S.; D’Silva, N.; Barrett, H.; Jones, T.; Couper, J.; Donaghue, K.; Isbel, N.; Johnson, D.W.; Donnellan, L.; Deo, P.; et al.
2021Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemiaOchi, Y.; Yoshida, K.; Huang, Y.-J.; Kuo, M.-C.; Nannya, Y.; Sasaki, K.; Mitani, K.; Hosoya, N.; Hiramoto, N.; Ishikawa, T.; Branford, S.; Shanmuganathan, N.; Ohyashiki, K.; Takahashi, N.; Takaku, T.; Tsuchiya, S.; Kanemura, N.; Nakamura, N.; Ueda, Y.; Yoshihara, S.; et al.
2021T-Cell Expression and Release of Kidney Injury Molecule-1 in Response to Glucose Variations Initiates Kidney Injury in Early Diabetes.Forbes, J.M.; McCarthy, D.A.; Kassianos, A.J.; Baskerville, T.; Fotheringham, A.K.; Giuliani, K.T.K.; Grivei, A.; Murphy, A.J.; Flynn, M.C.; Sullivan, M.A.; Chandrashekar, P.; Whiddett, R.; Radford, K.J.; Flemming, N.; Beard, S.S.; D'Silva, N.; Nisbet, J.; Morton, A.; Teasdale, S.; Russell, A.; et al.
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.

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