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  • Thambyrajah R, Maqueda M, Fadlullah MZ, Proffitt M, Neo WH, Guillén Y, Casado-Pelaez M, Herrero-Molinero P, Brujas C, Castelluccio N, González J, Iglesias A, Marruecos L, Ruiz-Herguido C, Esteller M, Mereu E, Lacaud G, Espinosa L and Bigas A.

    IkBa controls dormancy in hematopoietic stem cells via retinoic acid during embryonic development.

    NATURE COMMUNICATIONS . 15(1): 4673-4673.

    [doi:10.1038/s41467-024-48854-5]

  • Olorón, PM, Alegría, I, César-Díaz S, del Olmo, B, Martínez-Barrios E, Carrera-García L, Natera-de Benito D, Nascimento-Osorio A, Campuzano, O and Sarquella-Brugada G.

    Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(11): .

    [doi:10.3390/ijms25115836]

  • Brunet L, Zuccarino F, Prada F and Carretero JM.

    Scimitar Syndrome in a Pediatric Cohort.

    WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY . : .

    [doi:10.1177/21501351241247512]

  • Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui JC, Chipa-Ccasani F, Greco A, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada-Terradellas J and Sarquella-Brugada G.

    Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

    GENES . 15(5): .

    [doi:10.3390/genes15050638]

  • Camiña-Conforto G, Ivars M, Sarquella-Brugada G, Carlos Valera Dávila, Salvador-Hernandez H, Rovira-Zurriaga C and Baselga E.

    Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy

    PEDIATRIC DERMATOLOGY . : .

    [doi:10.1111/pde.15632]

  • Pérez-Serra A, Toro R, Martínez-Barrios E, Iglesias A, Fernandez-Falgueras A, Alcalde M, Coll M, Puigmulé M, Del Olmo B, Picó F, Lopez L, Arbelo E, César-Díaz S, Llano CT, Mangas A, Brugada-Terradellas J, Sarquella-Brugada G, Brugada R and Campuzano O.

    Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(7): .

    [doi:10.3390/ijms25073807]

  • Vellvé K, Garcia P, Nogueira M, Youssef L, Arranz A, Nakaki A, Boada D, Blanco I, Faner R, Figueras-Retuerta F, Agustí À, Gratacós E, Crovetto F, Bijnens B and Fàtima Crispi Brillas.

    Pulmonary vascular reactivity in growth restricted fetuses using computational modelling and machine learning analysis of fetal Doppler waveforms

    SCIENTIFIC REPORTS . 14(1): 5919-5919. Number of citations: 1

    [doi:10.1038/s41598-024-54603-x]

  • Martínez-Moreno R, Carreras D, Sarquella-Brugada G, Pérez GJ, Selga E, Scornik FS and Brugada R.

    Loss of sodium current caused by a Brugada syndrome-associated variant is determined by patient-specific genetic background

    Heart Rhythm . 21(3): 331-339. Number of citations: 1

    [doi:10.1016/j.hrthm.2023.11.019]

  • Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.

    L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study

    BRAIN . : 1653-1666.

    [doi:10.1093/brain/awae041]

  • Vega Puyal L, Llurba E, Ferrer Q, Dolader Codina P, Sánchez García O, Montoliu Ruiz A and Sanchez deToledo J.

    Neurodevelopmental outcomes in congenital heart disease: Usefulness of biomarkers of brain injury.

    anales de pediatria . 100(1): 13-24.

    [doi:10.1016/j.anpede.2023.12.007]