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Browsing Articles (Departament de Medicina i Ciències de la Vida) by Author "Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium"

Browsing Articles (Departament de Medicina i Ciències de la Vida) by Author "Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium"

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  • Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou Ntalis, Anastasios; Piscia, Davide; Tonda, Raúl; González, Juan Ramón; Laurie, Steven, 1973-; Luengo, Cristina; Ovelleiro, David; Parra Farré, Genís; Pérez Jurado, Luis Alberto; Beltran, Sergi; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium (Elsevier, 2022)
    Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive ...

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