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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.
Functional prediction of proteins from the human gut archaeome.
Novikova PV, Bhanu Busi S, Probst AJ, May P, Wilmes P. Novikova PV, et al. Among authors: may p. ISME Commun. 2024 Jan 10;4(1):ycad014. doi: 10.1093/ismeco/ycad014. eCollection 2024 Jan. ISME Commun. 2024. PMID: 38486809 Free PMC article.
Place of Death for Adults Receiving Specialist Palliative Care in Their Last 3 Months of Life: Factors Associated With Preferred Place, Actual Place, and Place of Death Congruence.
Smith S, Brick A, Johnston B, Ryan K, McQuillan R, O'Hara S, May P, Droog E, Daveson B, Morrison RS, Higginson IJ, Normand C. Smith S, et al. Among authors: may p. J Palliat Care. 2024 Feb 25:8258597241231042. doi: 10.1177/08258597241231042. Online ahead of print. J Palliat Care. 2024. PMID: 38404130 Free article.
1,468 results