• <em>OTOF</em>-Related Deafness
• A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia
• AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial
• Auditory and imaging markers of atypical enlarged vestibular aqueduct
• Bilateral gene therapy in children with autosomal recessive deafness 9: single-arm trial results
• Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
• Cochlear implant in a subject affected by the Chudley-McCullough Syndrome
• Cochlear Implantation in Children with Enlarged Vestibular Aqueduct: A Systematic Review of Surgical Implications and Outcomes
• Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications
• Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
• Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population
• Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
• Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents
• EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness
• Evidence of vestibular dysfunction in children with enlarged vestibular aqueduct
• Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants
• Identification of mutations on the <em>EMD</em> and <em>EYA4</em> genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report
• Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report
• Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study
• Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
• Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example
• Phenotypic characterization of retinitis pigmentosa associated with deafness
• Receptive language acquisition in a pediatric population with Pendred syndrome and non-syndromic enlarged vestibular aqueduct
• Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire
• Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin
• Static Perimetry in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) Study: Assessment Through 2 Years
• Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss
• The Audiological Profile and Rehabilitation of Patients with Incomplete Partition Type II and Large Vestibular Aqueducts
• Variations in the cochlear implant experience in children with enlarged vestibular aqueduct
• Vestibular Aqueduct Midpoint Width and Hearing Loss in Patients With an Enlarged Vestibular Aqueduct