Show 5 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Avila-Fernandez, Almudena" or (type any "bookEditor issueEditor" and editor="Avila-Fernan... Add to list Journal Article A1 Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1 Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, Ana Arteche, Almudena Avila-Fernandez, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Caroline Van Cauwenbergh (UGent) , Elfride De Baere (UGent) , Carlo Rivolta, et al. (2019) AMERICAN JOURNAL OF OPHTHALMOLOGY. 207. p.204-214 Add to list Journal Article A1 open access Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa Paola Benaglio, Patricia Fernandez San Jose, Almudena Avila-Fernandez, Giulia Ascari (UGent) , Shyana Harper, Gaël Manes, Carmen Ayuso, Christian Hamel, Eliot L Berson and Carlo Rivolta (2014) MOLECULAR VISION. 20. p.843-851 Add to list Journal Article A1 Mutations in IMPG1 cause vitelliform macular dystrophies Gaël Manes, Isabelle Meunier, Almudena Avila-Fernández, Sandro Banfi, Guylène Le Meur, Xavier Zanlonghi, Marta Corton, Francesca Simonelli, Philippe Brabet, Gilles Labesse, et al. (2013) AMERICAN JOURNAL OF HUMAN GENETICS. 93(3). p.571-578 Add to list Journal Article A1 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome Alejandro Estrada-Cuzcano, Robert K Koenekoop, Audrey Senechal, Elfride De Baere (UGent) , Thomy de Ravel, Sandro Banfi, Ssusanne Kohl, Carmen Ayuso, Dror Sharon, Carel B Hoyng, et al. (2012) ARCHIVES OF OPHTHALMOLOGY. 130(11). p.1425-1432