[HTML][HTML] Genetic hearing loss overview
AE Shearer, MS Hildebrand, AM Schaefer… - GeneReviews® …, 2023 - ncbi.nlm.nih.gov
Genetic Hearing Loss Overview - GeneReviews® - NCBI Bookshelf US flag An official website
of the United States government Here's how you know NIH NLM Logo Access keys NCBI …
of the United States government Here's how you know NIH NLM Logo Access keys NCBI …
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Abstract Background Mutations in ABHD12 (OMIM: 613,599) are associated with
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome …
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome …
[HTML][HTML] Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes
Y Jin, X Liu, Q Zhang, Y Xiong, Y Hu, H He, W Chen… - Biomedicines, 2024 - mdpi.com
Background: Hearing loss (HL) is the most common disorder in newborns with a highly
heterogeneous genetic background. Despite significant progress in screening and …
heterogeneous genetic background. Despite significant progress in screening and …
Rendimiento diagnóstico del estudio genético en adultos con hipoacusia neurosensorial
SR del Barrio, J de Vergas Gutiérrez… - Acta …, 2024 - Elsevier
Introducción La contribución de la genética en la hipoacusia neurosensorial (HNS) del
adulto es menos conocida que en la hipoacusia infantil, y el diagnóstico genético aún no …
adulto es menos conocida que en la hipoacusia infantil, y el diagnóstico genético aún no …
Hearing and Vestibular Impairment Related to a Variant (c.263G>C) of the COCH Gene
AV Alonso, RG Aguado, AM Camerano… - … –Head and Neck … - Wiley Online Library
Objective To ascertain pathogenic variants frequency and type in the COCH gene among
Cantabrian patients with nonsyndromic hereditary hearing loss (HL), and to understand their …
Cantabrian patients with nonsyndromic hereditary hearing loss (HL), and to understand their …
Comments on the article: Diagnostic yield of the genetic study in adults with sensorineural hearing loss
C Morales-Angulo… - Acta …, 2024 - pubmed.ncbi.nlm.nih.gov
Comments on the article: Diagnostic yield of the genetic study in adults with sensorineural
hearing loss Comments on the article: Diagnostic yield of the genetic study in adults with …
hearing loss Comments on the article: Diagnostic yield of the genetic study in adults with …
[PDF][PDF] “Sordo-ceguera”, diagnóstico diferencial a propósito de un caso de Síndrome PHARC.
AV Alonso, RG Aguado, PR Sanz… - gaesmedica.com
El síndrome (Sd.) PHARC es el acrónimo de polineuropatía desmielinizante, hipoacusia
(HC), ataxia cerebelosa, retinosis pigmentaria (RP) y cataratas de inicio precoz. Es una …
(HC), ataxia cerebelosa, retinosis pigmentaria (RP) y cataratas de inicio precoz. Es una …