Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study

by Raffaella Brunetti-Pierri, Marianthi Karali, Paolo Melillo, Valentina Di Iorio, Antonella De Benedictis, Gennarfrancesco Iaccarino, Francesco Testa, Sandro Banfi, Francesca Simonelli
Published 2021-02-01

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

by Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri
Published 2019-06-01

The Role of Optical Coherence Tomography in an Atypical Case of Oculocutaneous Albinism: A Case Report

by Settimio Rossi, Francesco Testa, Annagiusi Gargiulo, Valentina Di Iorio, Raffaella Brunetti Pierri, Francesco Maria D’Alterio, Michele Della Corte, Enrico Surace, Francesca Simonelli
Published 2012-03-01

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies

by Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
Published 2017-10-01

Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants

by Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi, Francesca Simonelli
Published 2021-07-01