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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: sharpe c. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Analysis of EEG patterns and genotypes in patients with Angelman syndrome.
Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, Morales A, Nespeca M, Sharpe C, Haas K, Barnes G, Glaze D, Kothare SV. Vendrame M, et al. Among authors: sharpe c. Epilepsy Behav. 2012 Mar;23(3):261-5. doi: 10.1016/j.yebeh.2011.11.027. Epub 2012 Feb 16. Epilepsy Behav. 2012. PMID: 22341959
PTPN11 Mutation Clonal Hierarchy in Acute Myeloid Leukemia.
Fobare S, Sharpe C, Quinn K, Bryant K, Miles LA, Bowman RL, Cheney C, Furby C, Long M, Fyock K, Wronowski B, Lerma JR, Mullaney A, Mrózek K, Nicolet D, Sesterhenn T, Johnstone ME, Rai SN, Pasare C, Zimmermann N, Carroll AJ, Stone RM, Wang ES, Kolitz JE, Powell BL, Perentesis JP, Eisfeld AK, Hertlein E, Byrd JC. Fobare S, et al. Among authors: sharpe c. bioRxiv [Preprint]. 2024 Sep 20:2024.09.18.612239. doi: 10.1101/2024.09.18.612239. bioRxiv. 2024. PMID: 39345464 Free PMC article. Preprint.
The burden of hyperkalaemia on hospital healthcare resources.
Logan Ellis H, Al-Agil M, Kelly PA, Teo J, Sharpe C, Whyte MB. Logan Ellis H, et al. Among authors: sharpe c. Clin Exp Med. 2024 Aug 13;24(1):190. doi: 10.1007/s10238-024-01452-7. Clin Exp Med. 2024. PMID: 39136879 Free PMC article.
Cognitive and psychiatric symptom trajectories 2-3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK.
Taquet M, Skorniewska Z, De Deyn T, Hampshire A, Trender WR, Hellyer PJ, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Leavy OC, Richardson M, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Saunders RM, Harris VC, Rogers N, Houchen-Wolloff L, Greening NJ, Mansoori P, Harrison EM, Docherty AB, Lone NI, Quint J, Brightling CE, Wain LV, Evans RA, Geddes JR, Harrison PJ; PHOSP-COVID Study Collaborative Group. Taquet M, et al. Lancet Psychiatry. 2024 Sep;11(9):696-708. doi: 10.1016/S2215-0366(24)00214-1. Epub 2024 Jul 31. Lancet Psychiatry. 2024. PMID: 39096931 Free article.
292 results