Exploratory analysis of transposable elements expression in the C. elegans early embryo by Federico Ansaloni, Margherita Scarpato, Elia Di Schiavi, Stefano Gustincich, Remo Sanges

Get full text

A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss by Margherita Scarpato, Francesco Testa, Anna Nesti, Roberta Zeuli, Rosa Boccia, Gennaro Auletta, Sandro Banfi, Francesca Simonelli, Marianthi Karali

Get full text

Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients by Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

Get full text

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy by Marianthi Karali, Francesco Testa, Valentina Di Iorio, Annalaura Torella, Roberta Zeuli, Margherita Scarpato, Francesca Romano, Maria Elena Onore, Mariateresa Pizzo, Paolo Melillo, Raffaella Brunetti-Pierri, Ilaria Passerini, Elisabetta Pelo, Frans P. M. Cremers, Gabriella Esposito, Vincenzo Nigro, Francesca Simonelli, Sandro Banfi

Get full text