Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

• Asıl Yazarlar: Rubén Cabanillas (Yazar), Marta Diñeiro (Yazar), Guadalupe A. Cifuentes (Yazar), David Castillo (Yazar), Patricia C. Pruneda (Yazar), Rebeca Álvarez (Yazar), Noelia Sánchez-Durán (Yazar), Raquel Capín (Yazar), Ana Plasencia (Yazar), Mónica Viejo-Díaz (Yazar), Noelia García-González (Yazar), Inés Hernando (Yazar), José L. Llorente (Yazar), Alfredo Repáraz-Andrade (Yazar), Cristina Torreira-Banzas (Yazar), Jordi Rosell (Yazar), Nancy Govea (Yazar), Justo Ramón Gómez-Martínez (Yazar), Faustino Núñez-Batalla (Yazar), José A. Garrote (Yazar), Ángel Mazón-Gutiérrez (Yazar), María Costales (Yazar), María Isidoro-García (Yazar), Belén García-Berrocal (Yazar), Gonzalo R. Ordóñez (Yazar), Juan Cadiñanos (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-07-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genomic regions (gene panel/exome/genome), anal...