Eye (London, England)۲۰۲۵۹ استنادنمایه شده در PubMed
Anna Esteve-Garcia, Ariadna Padró-Miquel, Jaume Català-Mora, Cristina Sau, Delia Yubero, Zelia Corradi, Frans P M Cremers, Pilar Barberán-Martínez, José M Millán, Gema García-García, Ilyana Ismael, Luis Arias, Estefania Cobos, Cinthia Aguilera
چکیده
Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis,…
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DOI: 10.1038/s41433-025-03981-1