Showing 1 - 2 results of 2 for search 'Roberta Zeuli', query time: 0.02s Refine Results
  1. 1
    A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss

    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

    Published 2025-02-01
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  2. 2
    Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies

    Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies by 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

    Published 2025-07-01
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