Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
AuteursRay Das S, Sullivan R, Ruegg MSG, Horsfield J, Doran J, Poke G, de Vries N, Duerinckx S, Lederer D, Haniffa M, Keng WT, Ch'ng GS, Parry DA, Jackson AP, Sakamoto M, Matsumoto N, Miyake N, Nabatame S, Taniguchi H, Wakeling E, Õunap K, Ilves P, Mirzaa G, Timms A, Pao E, Aldinger KA, Dobyns W, Bohring A, Behre B, Calame DG, Lupski JR, Pascual JM, Abramowicz M, Gimenez G, Bicknell LS
Dose-response and infusion duration of intra-arterial nimodipine in cerebral vasospasm after aneurysmal subarachnoid hemorrhage: a single-center case series.
AuteursGuenego A, Salim HA, Taccone FS, Heit JJ, Wang M, Sadeghi N, Ligot N, Lolli V, Yedavalli V, Wintermark M, Tannouri F, Lubicz B
