Browsing by Author "Segarra Casas, Alba"
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Item Open Access A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps(Wiley, 2025) Segarra Casas, Alba; Iruzubieta, Pablo; Kapetanovic, Solange; Hernández-Laín, Aurelio; Jericó, Ivonne; Fernández Torrón, Roberto; Maneiro, Miren; Marco Moreno, Pablo; Zelaya Huerta, M. Victoria; Rodríguez Santiago, Benjamín; Calafell i Majó, Francesc; Töpf, Ana; Straub, Volker; Vallejo Illarramendi, Ainara; López de Munain, Adolfo; Gallano, Pía; Gonzalez-Quereda, Lidia
Item Open Access Enhancers with tissue-specific activity are enriched in intronic regions(Cold Spring Harbor Laboratory Press (CSHL Press), 2021) Borsari, Beatrice, 1992-; Villegas Mirón, Pablo; Pérez-Lluch, Sílvia; Turpin, Isabel; Laayouni, Hafid, 1968-; Segarra Casas, Alba; Bertranpetit, Jaume, 1952-; Guigó Serra, Roderic; Acosta, Sandra