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Results 1-10 of 17 (Search time: 0.001 seconds).
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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.
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.
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.
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.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2012Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)Johnston, C.; O'Leary, M.; Brown, S.; Currie, B.; Halkidis, L.; Whitaker, R.; Close, B.; Isbister, G.; Nagree, Y.; Ker, F.; Greene, S.; Taylor, M.; Macrokanis, C.; Wilke, G.; Coulson, A.; Barnes, C.; Bonni, R.; Whitake, R.; Halkidis, L.; Isbiste, G.; et al.; de Silva, J.

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