يعرض 1 - 20 نتائج من 47 نتيجة بحث عن '"Pennacchio LA"', وقت الاستعلام: 0.62s تنقيح النتائج
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    وصف الملف: text

    Relation: https://eprints.leedsbeckett.ac.uk/id/eprint/9821/1/DeletionOfANoncanonicalRegulatorySequenceCausesLossOfScn1AExpressionAndEpilepticPhenotypesInMicePV-HAIGH.pdf; Haigh, JL and Adhikari, A and Copping, NA and Stradleigh, T and Wade, AA and Catta-Preta, R and Su-Feher, L and Zdilar, I and Morse, S and Fenton, TA and Nguyen, A and Quintero, D and Agezew, S and Sramek, M and Kreun, EJ and Carter, J and Gompers, A and Lambert, JT and Canales, CP and Pennacchio, LA and Visel, A and Dickel, DE and Silverman, JL and Nord, AS (2021) Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice. Genome Medicine, 13 (1). pp. 1-22. ISSN 1756-994X DOI: https://doi.org/10.1186/s13073-021-00884-0

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    المؤلفون: van der Harst, P, van Setten, J, Verweij, N, Vogler, G, Franke, L, Maurano, MT, Wang, X, Leach, IM, Eijgelsheim, M, Sotoodehnia, N, Hayward, C, Sorice, R, Meirelles, O, Lyytikainen, L-P, Polasek, O, Tanaka, T, Arking, DE, Ulivi, S, Trompet, S, Mueller-Nurasyid, M, Smith, AV, Doerr, M, Kerr, KF, Magnani, JW, Del Greco, F, Zhang, W, Nolte, IM, Silva, CT, Padmanabhan, S, Tragante, V, Esko, T, Abecasis, GR, Adriaens, ME, Andersen, K, Barnett, P, Bis, JC, Bodmer, R, Buckley, BM, Campbell, H, Cannon, MV, Chakravarti, A, Chen, LY, Delitala, A, Devereux, RB, Doevendans, PA, Dominiczak, AF, Ferrucci, L, Ford, I, Gieger, C, Harris, TB, Haugen, E, Heinig, M, Hernandez, DG, Hillege, HL, Hirschhorn, JN, Hofman, A, Hubner, N, Hwang, S-J, Iorio, A, Kahonen, M, Kellis, M, Kolcic, I, Kooner, IK, Kooner, JS, Kors, JA, Lakatta, EG, Lage, K, Launer, LJ, Levy, D, Lundby, A, Macfarlane, PW, May, D, Meitinger, T, Metspalu, A, Nappo, S, Naitza, S, Neph, S, Nord, AS, Nutile, T, Okin, PM, Olsen, JV, Oostra, BA, Penninger, JM, Pennacchio, LA, Pers, TH, Perz, S, Peters, A, Pinto, YM, Pfeufer, A, Pilia, MG, Pramstaller, PP, Prins, BP, Raitakari, OT, Raychaudhuri, S, Rice, KM, Rossin, EJ, Rotter, JI, Schafer, S, Schlessinger, D, Schmidt, CO, Sehmi, J, Sillje, HHW, Sinagra, G, Sinner, MF, Slowikowski, K, Soliman, EZ, Spector, TD, Spiering, W, Stamatoyannopoulos, JA, Stolk, RP, Strauch, K, Tan, S-T, Tarasov, KV, Trinh, B, Uitterlinden, AG, van den Boogaard, M, van Duijn, CM, van Gilst, WH, Viikari, JS, Visscher, PM, Vitart, V, Voelker, U, Waldenberger, M, Weichenberger, CX, Westra, H-J, Wijmenga, C, Wolffenbuttel, BH, Yang, J, Bezzina, CR, Munroe, PB, Snieder, H, Wright, AF, Rudan, I, Boyer, LA, Asselbergs, FW, van Veldhuisen, DJ, Stricker, BH, Psaty, BM, Ciullo, M, Sanna, S, Lehtimaki, T, Wilson, JF, Bandinelli, S, Alonso, A, Gasparini, P, Jukema, JW, Kaeaeb, S, Gudnason, V, Felix, SB, Heckbert, SR, de Boer, RA, Newton-Cheh, C, Hicks, AA, Chambers, JC, Jamshidi, Y, Visel, A, Christoffels, VM, Isaacs, A, Samani, NJ, de Bakker, PIW

    المصدر: Journal of the American College of Cardiology , 68 (13) pp. 1435-1448. (2016)

    وصف الملف: text

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    المساهمون: Cordeddu, V, Yin, J, Gunnarsson, C, Virtanen, C, Drunat, S, Lepri, F, De Luca, A, Rossi, C, Ciolfi, A, Pugh, T, Bruselles, A, Priest, J, Pennacchio, L, Lu, Z, Danesh, A, Quevedo, R, Hamid, A, Martinelli, S, Pantaleoni, F, Gnazzo, M, Daniele, P, Lissewski, C, Bocchinfuso, G, Stella, L, Odent, S, Philip, N, Faivre, L, Vlckova, M, Seemanova, E, Digilio, C, Zenker, M, Zampino, G, Verloes, A, Dallapiccola, B, Roberts, A, Cave, H, Gelb, B, Neel, B, Tartaglia, M

    Relation: info:eu-repo/semantics/altIdentifier/pmid/26173643; info:eu-repo/semantics/altIdentifier/wos/WOS:000362991400011; firstpage:n/a; lastpage:n/a; journal:HUMAN MUTATION; http://hdl.handle.net/2108/118204; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84944179450

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    المساهمون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M.

    وصف الملف: STAMPA

    Relation: info:eu-repo/semantics/altIdentifier/pmid/19684605; info:eu-repo/semantics/altIdentifier/wos/WOS:000269382100016; volume:41; issue:9; firstpage:1022; lastpage:1026; numberofpages:5; journal:NATURE GENETICS; http://hdl.handle.net/2318/62970; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-69349105766; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765465/

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    المساهمون: Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M

    Relation: ispartofbook:Atti del XII Congresso Nazionale SIGU 2009; XII Congresso Nazionale SIGU 2009; firstpage:-; lastpage:-; numberofpages:1; http://hdl.handle.net/2318/73452