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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions by Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, G. Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruiz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl-Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
Published 2024-09-01
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An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype by Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Palma Finelli, Palma Finelli, Lidia Larizza, María Arnedo, Ariadna Ayerza-Casas, Ariadna Ayerza-Casas, Julia Del Rincón, Laura Trujillano, Laura Trujillano, Beatriz Morte, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Luis A. Pérez-Jurado, Pablo Lapunzina, Pablo Lapunzina, Pablo Lapunzina, Elsa Leitão, Jasmin Beygo, Christina Lich, Fabian Kilpert, Sabine Kaya, Christel Depienne, Frank J. Kaiser, Frank J. Kaiser, Feliciano J. Ramos, Beatriz Puisac, Juan Pié
Published 2024-11-01
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