Arama Sonuçları - Roberta Zeuli

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

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Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies Yazar: Dalila Capasso, Roberta Zeuli, Gavin Arno, Michael Kwint, Raoul Timmermans, Karla A. Ruiz-Ceja, Marianthi Karali, Francesca Simonelli, Sabrina Signorini, Enza Maria Valente, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing, Daan M. Panneman, Suzanne E. de Bruijn

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Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients Yazar: 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

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