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  1. Sala-Coromina, Júlia; Miguel, Lucía Dougherty-de; de las Heras, Javier; Lasa-Aranzasti, Amaia; Garcia-Arumi, Elena; Carreño, Lidia; Arranz, Jose Antonio; Carnicer, Clara; Unceta-Suárez, María; Sanchez-Montañez, Angel; Gort, Laura; Tort, Frederic; del Toro, Mireia

    Leigh syndrome associated with TRMU gene mutations

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    Elsevier BV, 2021

    Published in: Molecular Genetics and Metabolism Reports

  2. Ribeiro-Constante, Juliana; Tristán-Noguero, Alba; Martínez Calvo, Fernando Francisco; Ibañez-Mico, Salvador; Peña Segura, José Luis; Ramos-Fernández, José Miguel; Moyano Chicano, María del Carmen; Camino León, Rafael; Soto Insuga, Víctor; González Alguacil, Elena; Valera Dávila, Carlos; Fernández-Jaén, Alberto; Plans, Laura; Camacho, Ana; Visa-Reñé, Nuria; Martin-Tamayo Blázquez, María del Pilar; Paredes-Carmona, Fernando; Marti-Carrera, Itxaso; Hernández-Fabián, Aránzazu; Tomas Davi, Meritxell; Sanchez, Merce Casadesus; Herraiz, Laura Cuesta; Pita, Patricia Fuentes; Gonzalez, Teresa Bermejo; [...]

    Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

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    Frontiers Media SA, 2024

    Published in: Frontiers in Cell and Developmental Biology

  3. Schmetz, Ariane; Lüdecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Solà, Marta; Colson, Cindy; Cuscó, Ivon; Denommé-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; [...]

    Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

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    Springer Science and Business Media LLC, 2024

    Published in: Human Genetics