Browsing by author "Ayuso, Carmen"
Now showing items 1-3 of 3
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
Perea Romero, Irene; López Solarat, Carlos; Blanco Kelly, Fiona; Sanchez Navarro, Iker; Bea Mascato, Brais
; Martin Salazar, Jesús Eduardo
; Lorda Sanchez, Isabel; Swafiri, Saoud Tahsin; Avila Fernández, Almudena; Martin Merida, Inmaculada; Trujillo Tiebas, Maria Jose; Carreño, Ester; Jiménez Rolando, Belen; García Sandoval, Blanca; Minguez, Pablo; Corton, Marta; Valverde Pérez, Diana
; Ayuso, Carmen
article
Bioquímica, xenética e inmunoloxía
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Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Sánchez Navarro, Iker; R. J. da Silva, Luciana; Blanco Kelly, Fiona; Zurita, Olga; Sánchez Bolivar, Noelia; Villaverde, Cristina; López Molina, María Isabel; García Sandoval, Blanca; Tahsin Swafiri, Saoud; Mínguez, Pablo; Riveiro Álvarez, Rosa; Lorda, Isabel; Sánchez Alcudia, Rocío; Pérez Carro, Raquel; Valverde Pérez, Diana; Liu, Yichuan; Tian, Lifeng; Hakonarson, Hakon; Ávila Fernández, Almudena; Corton, Marta; Ayuso, Carmen
article
Bioquímica, xenética e inmunoloxía
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Prevalent ALMS1 pathogenic variants in Spanish Alström patients
Bea Mascato, Brais; López Solarat, Carlos
; Perea Romero, Irene; Jaijo, Teresa; Blanco Kelly, Fiona; Millán, José M.; Ayuso, Carmen; Valverde Pérez, Diana
article
Bioquímica, xenética e inmunoloxía