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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

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Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss

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A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

Auditory externalization of a remote microphone signal

Repeat stereotactic radiosurgery for progressive vestibular schwannomas after previous radiosurgery: a systematic review and meta-analysis

Efficient viral transduction in mouse inner ear hair cells with utricle injection and AAV9-PHP.B

Delivery of CRISPR/Cas9 using AAV-PHP.B in the inner ear leads to allele-specific inactivation of the mutated Tmc1 allele and protects auditory function in Beethoven mice

Inner ear cellular imaging through scattering bone

Perception of Auditory Distance in Normal-Hearing and Moderate-to-Profound Hearing-Impaired Listeners

Allele-specific gene editing prevents deafness in a model of dominant progressive hearing loss

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia