Found: 4

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  • Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Published in:
    2018
    By:
    • Repp, Birgit M.;
    • Mastantuono, Elisa;
    • Alston, Charlotte L.;
    • Schiff, Manuel;
    • Haack, Tobias B.;
    • Rötig, Agnes;
    • Ardissone, Anna;
    • Lombès, Anne;
    • Catarino, Claudia B.;
    • Diodato, Daria;
    • Schottmann, Gudrun;
    • Poulton, Joanna;
    • Burlina, Alberto;
    • Jonckheere, An;
    • Munnich, Arnold;
    • Rolinski, Boris;
    • Ghezzi, Daniele;
    • Rokicki, Dariusz;
    • Wellesley, Diana;
    • Martinelli, Diego
    Publication type:
    journal article

  • Congenital heart disease risk loci identified by genome-wide association study in European patients.

    Published in:
    2021
    By:
    • Lahm, Harald;
    • Jia, Meiwen;
    • Dreßen, Martina;
    • Wirth, Felix;
    • Puluca, Nazan;
    • Gilsbach, Ralf;
    • Keavney, Bernard D.;
    • Cleuziou, Julie;
    • Beck, Nicole;
    • Bondareva, Olga;
    • Dzilic, Elda;
    • Burri, Melchior;
    • König, Karl C.;
    • Ziegelmüller, Johannes A.;
    • Abou-Ajram, Claudia;
    • Neb, Irina;
    • Zhong Zhang;
    • Doppler, Stefanie A.;
    • Mastantuono, Elisa;
    • Lichtner, Peter
    Publication type:
    journal article

  • The genetics underlying acquired long QT syndrome: impact for genetic screening.

    Published in:
    European Heart Journal, 2016, v. 37, n. 18, p. 1456, doi. 10.1093/eurheartj/ehv695
    By:
    • Itoh, Hideki;
    • Crotti, Lia;
    • Aiba, Takeshi;
    • Spazzolini, Carla;
    • Denjoy, Isabelle;
    • Fressart, Veeronique;
    • Hayashi, Kenshi;
    • Nakajima, Tadashi;
    • Ohno, Seiko;
    • Makiyama, Takeru;
    • Jie Wu;
    • Hasegawa, Kanae;
    • Mastantuono, Elisa;
    • Dagradi, Federica;
    • Pedrazzini, Matteo;
    • Yamagishi, Masakazu;
    • Berthet, Myriam;
    • Murakami, Yoshitaka;
    • Shimizu, Wataru;
    • Guicheney, Pascale
    Publication type:
    Article

  • Interplay of cell–cell contacts and RhoA/MRTF‐A signaling regulates cardiomyocyte identity.

    Published in:
    EMBO Journal, 2018, v. 37, n. 12, p. 1, doi. 10.15252/embj.201798133
    By:
    • Dorn, Tatjana;
    • Kornherr, Jessica;
    • Parrotta, Elvira I.;
    • Zawada, Dorota;
    • Ayetey, Harold;
    • Santamaria, Gianluca;
    • Iop, Laura;
    • Mastantuono, Elisa;
    • Sinnecker, Daniel;
    • Goedel, Alexander;
    • Dirschinger, Ralf J.;
    • My, Ilaria;
    • Laue, Svenja;
    • Bozoglu, Tarik;
    • Baarlink, Christian;
    • Ziegler, Tilman;
    • Graf, Elisabeth;
    • Hinkel, Rabea;
    • Cuda, Giovanni;
    • Kääb, Stefan
    Publication type:
    Article