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Last Updated: 10/31/2025
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Found 309 publications
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.
Journal: American journal of medical genetics. Part A
Published: August 11, 2025
A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.
Journal: Human molecular genetics
Published: April 02, 2025
Functional Correlation of Two Novel Nonsense POU4F3 Mutations Causing Late-Onset Progressive Nonsyndromic Hearing Loss in DFNA15 Families.
Journal: Molecular genetics & genomic medicine
Published: December 27, 2024
Fluctuating hearing loss associated with a novel heterozygous variant in the TNC gene related to nonsyndromic hearing loss.
Journal: Brazilian journal of otorhinolaryngology
Published: October 22, 2024
Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family.
Journal: Frontiers in genetics
Published: October 08, 2024
Biallelic variants of SEMA3F are associated with nonsyndromic hearing loss.
Journal: Molecules and cells
Published: September 24, 2024
Identification and Functional Characterization of a Novel PRPS1 Variant in X-Linked Nonsyndromic Hearing Loss: Insights From Zebrafish and Cellular Models.
Journal: Human mutation
Published: September 14, 2024
Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Journal: The journal of international advanced otology
Published: August 19, 2024
Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.
Journal: Genetic testing and molecular biomarkers
Published: July 17, 2024
Last Updated: 10/31/2025