Browsing by Author "Avila-Fernández, Almudena"

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  • García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-García, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José; Vázquez, Selma; Beltran, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Cortón, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M.; Ayuso, Carmen (Molecular Vision, 2020)
    PURPOSE: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. METHODS: Three patients from two unrelated families were initially analyzed with custom gene panels ...