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Results 1-10 of 30 (Search time: 0.004 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.
2019Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2019Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesiaGorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; 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.
2019Genomic subtyping and therapeutic targeting of acute erythroleukemiaIacobucci, I.; Wen, J.; Meggendorfer, M.; Choi, J.K.; Shi, L.; Pounds, S.B.; Carmichael, C.L.; Masih, K.E.; Morris, S.M.; Lindsley, R.C.; Janke, L.J.; Alexander, T.B.; Song, G.; Qu, C.; Li, Y.; Payne-Turner, D.; Tomizawa, D.; Kiyokawa, N.; Valentine, M.; Valentine, V.; 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.
2019Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelinationTea, F.; Lopez, J.A.; Ramanathan, S.; Merheb, V.; Lee, F.X.Z.; Zou, A.; Pilli, D.; Patrick, E.; van der Walt, A.; Monif, M.; Tantsis, E.M.; Yiu, E.M.; Vucic, S.; Henderson, A.P.D.; Fok, A.; Fraser, C.L.; Lechner-Scott, J.; Reddel, S.W.; Broadley, S.; Barnett, M.H.; 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.
2011Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and developmentSovio, U.; Mook-Kanamori, D.; Warrington, N.; Lawrence, R.; Briollais, L.; Palmer, C.; Cecil, J.; Sandling, J.; Syvanen, A.; Kaakinen, M.; Beilin, L.; Millwood, I.; Bennett, A.; Laitneen, J.; Pouta, A.; Molitor, J.; Smith, G.; Ben-Shlomo, Y.; Jaddoe, V.; Palmer, L.; et al.; Gibson, G.

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