English   español  

Browsing by Author Audo, Isabelle

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 8 of 8
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccess15-Jun-2011A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese familyAudo, Isabelle; Bujakowska, Kinga; Tronche, Sophie; Lonjou, Christine; Carpentier, Wassila; Bhattacharya, Shom Shanker ; Zeitz, ChristinaArtículo
openAccessarRP.pdf.jpg2011Copy-number variations in EYS: a significant event in the appearance of arRPPieras, Juan Ignacio; Barragán, Isabel; Borrego, Salud ; Audo, Isabelle; González del Pozo, María; Bernal, Sara; Baiget, Montserrat; Zeitz, Christina; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo Artículo
openAccessDevelopment_application_NGS_Audo.pdf.jpg2012Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseasesAudo, Isabelle; Bhattacharya, Shom Shanker ; Zeitz, ChristinaArtículo
closedAccessaccesoRestringido.pdf.jpg31-Aug-2010Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosaBarragán, Isabel; Borrego, Salud ; Pieras, Juan Ignacio; González del Pozo, María; Mena, Marcela; Abd El-Aziz, Mai M.; Audo, Isabelle; Zeitz, Christina; Dopazo, Joaquín; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo Artículo
closedAccessaccesoRestringido.pdf.jpg8-Feb-2011Novel C2orf71 mutations account for ~1% of cases in a large French arRP cohortAudo, Isabelle; Bhattacharya, Shom Shanker ; Zeitz, ChristinaArtículo
closedAccessaccesoRestringido.pdf.jpgJan-2012RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlationAudo, Isabelle; Orhan, Elise; Bhattacharya, Shom Shanker ; Zeitz, ChristinaArtículo
closedAccessaccesoRestringido.pdf.jpg2014The familial dementia gene revisited: a missense mutation revealed by whole exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large familyAudo, Isabelle; Bhattacharya, Shom Shanker ; Zeitz, ChristinaArtículo
closedAccessaccesoRestringido.pdf.jpg10-Feb-2012Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessAudo, Isabelle; Bhattacharya, Shom Shanker ; Zeitz, ChristinaArtículo