检索结果 - Paula Fernández‐Álvarez

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  1. 1
    Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up

    Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up 由 Roger Esmel-Vilomara, Lucía Riaza, Paola Dolader, Benjamín Rodríguez‐Santiago, Amaia Lasa‐Aranzasti, Patricia Muñoz-Cabello, Paula Fernández‐Álvarez, Marc Figueras-Coll, Lisa Bianco, Andrea Bueno-Gómez, Laura Vargas-Pons, Elisabet Camprubí-Tubella, Cristina Marimon-Blanch, Anna Sabaté-Rotés, Ferran Rosés‐Noguer, Ferrán Gran

    出版 2025
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  2. 2
    TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

    TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci 由 Erica E. Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan, Błażej Męczekalski, Karen E. Heath, Vanesa López‐González, María Juliana Ballesta‐Martínez, G Margabanthu, Susan Price, James Greening, Raja Brauner, Irene Valenzuela, Ivon Cuscó, Paula Fernández‐Álvarez, Margaret E. Wierman, Taibo Li, Kasper Lage, Priscila Sales Barroso, Yee-Ming Chan, William F. Crowley, Nicholas Katsanis

    出版 2020
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  3. 3
    Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction

    Clinical Risk Prediction in Patients With Left Ventricular Myocardial Noncompaction 由 Guillem Casas, Javier Limeres Freire, Gerard Oristrell, Laura Gutiérrez-García, Daniele Andreini, Mar Borregán, José M. Larrañaga‐Moreira, Ángela López‐Sainz, Marta Codina‐Solà, Gisela Teixidó‐Turà, José Antonio Sorolla Romero, Paula Fernández‐Álvarez, Josefa González‐Carrillo, Andrea Guala, Lucia La Mura, Rafaela Soler-Fernández, Augusto Sao Avilés, Juan José Santos Mateo, Josep Ramón Marsal, Aída Ribera, José Luís de la Pompa, Eduardo Villacorta, Juan Jiménez‐Jáimez, Tomás Ripoll‐Vera, Antoni Bayés‐Genís, José Manuel García‐Pinilla, Julián Palomino-Doza, Coloma Tirón, Gianluca Pontone, Jan Bogaert, Giovanni Donato Aquaro, Juan R. Gimeno, Esther Zorio, Pablo García‐Pavía, Roberto Barriales‐Villa, Artur Evangelista, Pier Giorgio Masci, Ignacio Ferreira‐González, José F. Rodríguez‐Palomares

    出版 2021
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  4. 4
    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

    CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 由 Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López‐Martín, Eva Bermejo, Beatriz Martı́nez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W.M. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández‐Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López‐González, Lluı́s Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Alexis B.R. Maddocks, Jennifer Bain, Musadiq A. Bhat, Gregory Costain, Pekka Kannus, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna‐Cherchi, Bruno Lemaître, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marija Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

    出版 2023
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