Results 81 to 90 of about 340 (163)
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. [PDF]
Nat CommunGroeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa A, Subramanian GM, Szeifert L, Tonduti D, Turan S, Vanderniet J, van der Walt A, Wémeau JL, van Wermeskerken AM, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Rivadeneira F, Meima ME, Marks DS, Nicola JP, Chen CH, Medici M, Visser WE. +121 moreeuropepmc +1 more sourceRisk of clonal hematopoiesis in families exposed to radiation following the Chornobyl accident. [PDF]
CarcinogenesisMachiela MJ, Wong WSW, Mai JZ, Karyadi DM, Drozdovitch V, Chan I, Vij V, Zhou W, Luo W, Wu D, Hutchinson A, Jones K, Hicks B, Bakhanova E, Chumak V, Gudzenko N, Kryuchkov V, Golovanov I, Bolton K, Cahoon EK, Morton LM, Bazyka D, Chanock SJ. +22 moreeuropepmc +1 more sourceArCH: improving the performance of clonal hematopoiesis variant calling and interpretation. [PDF]
BioinformaticsChan ICC, Panchot A, Schmidt E, McNulty S, Wiley BJ, Liu J, Turner K, Moukarzel L, Wong WSW, Tran D, Beeler JS, Batchi-Bouyou AL, Machiela MJ, Karyadi DM, Krajacich BJ, Zhao J, Kruglyak S, Lajoie B, Levy S, Patel M, Kantoff PW, Mason CE, Link DC, Druley TE, Stopsack KH, Bolton KL. +25 moreeuropepmc +1 more sourceComparative genomics on chloroplasts of Chinese <i>Rubus</i>: genetic structure and phylogenetic relationships with other species of Rosaceae. [PDF]
Front Plant SciChen JN, Feng CZ, Zhao DX, Deng LL, Chen YZ, Jia L, Ji HX, Yang MX, Li J, Huang TR, Ma LQ, Yang MF. +11 moreeuropepmc +1 more sourceCorrection: Human mutations in integrator complex subunits link transcriptome integrity to brain development. [PDF]
PLoS Genet, 2017 Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. +21 moreeuropepmc +1 more sourceStatus epilepticus in POLG disease: a large multinational study. [PDF]
J NeurolHikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA. +21 moreeuropepmc +1 more source