Showing items related by title, author, creator and subject.

• Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome 

  Perea Romero, Irene; Solarat, Carlos; Blanco-Kelly, Fiona; Sánchez Navarro, Iker; Bea-Mascato, Brais; Martin Salazar, Eduardo; Lorda Sánchez, Isabel; Tahsin Swafir, Saoud; Ávila Fernández, Almudena; Martin-Merida, Inmaculada; Trujillo Tiebas, María José; Carreño, Ester; Jimenez-Rolando, Belen; Garcia-Sandoval, Blanca; Mínguez, Pablo; Cortón, Marta; Valverde, Diana; Ayuso García, María del Carmen Tomasa
  2022-07-14

• Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies 

  Sánchez-Navarro, Iker; Da Silva, Luciana R.J.; Blanco-Kelly, Fiona; Zurita, Olga; Sánchez-Bolivar, Noelia; Villaverde, Cristina; López-Molina, María Isabel; García-Sandoval, Blanca; Tahsin-Swafiri, Saoud; Minguez, Pablo; Riveiro Álvarez, Rosa; Lorda, Isabel; Sánchez-Alcudia, Rocío; Pérez-Carro, Raquel; Valverde, Diana; Liu, Yichuan; Tian, Lifeng; Hakonarson, Hakon; Ávila-Fernández, Almudena; Corton, Marta; Ayuso, Carmen
  2018-12-01

• Clinical aspects of usher syndrome and the USH2A gene in a cohort of 433 patients 

  Blanco-Kelly, Fiona; Jaijo, Teresa; Aller, Elena; Avila-Fernandez, Almudena; López-Molina, María Isabel; Giménez, Ascensión; García-Sandoval, Blanca; Millán, José M.; Ayuso, Carmen
  2015-01-01