Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

Autor: Laura Cavallé-Garrido, Elena Aller, Alba Berzal-Serrano, Rebeca Villanova-Aparisi, Piedad García-Díaz, Miguel Armengot-Carceller, Sara Juárez-Rodríguez, Gema García-García, José M. Millán, Teresa Jaijo, Carlos de Paula-Vernetta

Publikováno v: Genes, Vol 11, Iss 1467, p 1467 (2020)
Genes
Volume 11
Issue 12
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a81168016d3c5561608b2c4ca26d39c6
https://www.mdpi.com/2073-4425/11/12/1467