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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: may p. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.
Maternal and paternal risk factors associated with diagnoses within the continuum of fetal alcohol spectrum disorders in the USA: Proximal and distal influences.
May PA, Hasken JM, Stegall JM, Mastro HA, Baete A, Russo J, Bozeman R, Burns MK, Jones JV, Kalberg WO, Buckley D, Abdul-Rahman O, Adam MP, Jewett T, Robinson LK, Manning MA, Hoyme HE. May PA, et al. Alcohol Clin Exp Res (Hoboken). 2024 Dec 12. doi: 10.1111/acer.15501. Online ahead of print. Alcohol Clin Exp Res (Hoboken). 2024. PMID: 39667847
Multi-methods process evaluation of the SToP (See, Treat, Prevent) trial: a cluster randomised, stepped wedge trial to support healthy skin.
Thomas HMM, Mullane M, Enkel SL, McRae T, Amgarth-Duff I, Carapetis JR, Coffin J, Christophers R, Famlonga R, Jacky J, Jones M, Marsh J, McIntosh K, O'Donnell V, Pan E, Pearson G, Sibosado S, Smith B, Snelling T, Steer A, Tong SYC, Walker R, Whelan A, White K, Wright E, Bowen AC; SToP (See, Treat, Prevent skin sores and scabies) Trial. Thomas HMM, et al. EClinicalMedicine. 2024 Oct 9;77:102793. doi: 10.1016/j.eclinm.2024.102793. eCollection 2024 Nov. EClinicalMedicine. 2024. PMID: 39649132 Free PMC article.
Implementation and evaluation of a navigation program for people with cancer in old age and their family caregivers: study protocol for the EU NAVIGATE International Pragmatic Randomized Controlled Trial.
Smets T, Pivodic L, Miranda R, Van Campe F, Vinckier C, Pesut B, Duggleby W, Davies AN, Lavan A, May P, Gomes B, Furlan de Brito M, Rodrigues V, Szczerbińska K, Kijowska V, Barańska I, De Buyser S, Ferraris D, Alfieri S, Scacciati B, Du Cheyne H, Chambaere K, Gilissen J, van der Plas AGM, Pasman RH, Onwuteaka-Philipsen BD; EU NAVIGATE; Van den Block L. Smets T, et al. Among authors: may p. Trials. 2024 Nov 27;25(1):800. doi: 10.1186/s13063-024-08633-5. Trials. 2024. PMID: 39605055 Free PMC article.
1,519 results