Disease: Nonsyndromic hereditary sensorineural hearing loss
- <em>Gjb3</em> Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran
- <em>SLC22A4</em> Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
- A New Pathogenic Variant in the TRIOBP Associated with Profound Deafness Is Remediable with Cochlear Implantation
- A non-coding variant in 5' untranslated region drove up-regulation of pseudo-kinase EPHA10 and caused non-syndromic hearing loss in humans
- A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23
- A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
- A novel recessive mutation in OXR1 is identified in patient with hearing loss recapitulated by the knockdown zebrafish
- A Novel Truncating Mutation in HOMER2 Causes Nonsyndromic Progressive DFNA68 Hearing Loss in a Spanish Family
- A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
- A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing
- A review of diagnosis and treatment of syndromic hearing loss
- A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
- ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment
- Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations
- Auditory Outcome after Cochlear Implantation in Children with DFNB7/11 Caused by Pathogenic Variants in TMC1 Gene
- Autosomal dominant non-syndromic hearing loss caused by a novel mutation in <em>MYO7A</em>: A case report and review of the literature
- Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
- Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss
- Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients
- Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss
- Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies
- Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations
- Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
- Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient
- Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
- Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
- Early truncation of the N-terminal variable region of EYA4 gene causes dominant hearing loss without cardiac phenotype
- Evaluation of a Less Invasive Cochlear Implant Surgery in <em>OPA1</em> Mutations Provoking Deafblindness
- Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss
- Functional Characterization of the <em>MYO6</em> Variant p.E60Q in Non-Syndromic Hearing Loss Patients
- Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients
- Functional Consequences of Pathogenic Variants of the <em>GJB2</em> Gene (Cx26) Localized in Different Cx26 Domains
- Generation and pathological characterization of a transgenic mouse model carrying a missense PJVK mutation
- Genetic diagnosis of childhood sensorineural hearing loss
- Genetic etiology of hearing loss in Iran
- Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries
- Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
- Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome
- Genetic testing of a Chinese pedigree affected with non-syndromic autosomal dominant deafness 15
- Genetic Variant c.245A>G (p.Asn82Ser) in <em>GIPC3</em> Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
- Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population
- Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges
- Genotype and Phenotype Analyses of a Novel <em>WFS1</em> Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
- GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population
- Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran
- Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families
- Hearing loss due to mutations in the genes responsible for Usher syndrome
- Hearing loss due to mutations or lack of the gene coding protein stereocillin
- Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania
- Hereditary hearing loss
- Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
- Hyaluronan Synthase 1: A Novel Candidate Gene Associated With Late-Onset Non-syndromic Hereditary Hearing Loss
- Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
- Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss
- Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole-exome sequencing
- Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS
- Identifications of the novel mutants on <em>MYO7A</em> in a family with non-syndromic hereditary deafness
- Identifications of the novel mutants on MYO7A in a family with non-syndromic hereditary deafness
- Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
- Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
- Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families
- Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in <em>USH2A</em>
- Mitochondrial tRNA(Ser(UCN)) mutations associated non-syndromic sensorineural hearing loss in Chinese families
- Modeling gap junction beta 2 gene-related deafness with human iPSC
- Molecular insights into <em>MYO3A</em> kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment
- Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment
- MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
- Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
- NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the <em>SLC26A4</em> gene: a case report and literature review
- Nonsyndromic deafness due to compound heterozygous mutation of the <em>CDH23</em> gene
- Nonsyndromic deafness due to compound heterozygous mutation of the CDH23 gene
- Novel <em>cis</em> compound heterozygous variants in <em>MYO6</em> causes early onset of non-syndromic hearing loss in a Chinese family
- Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
- Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
- Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families
- Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
- Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
- Novel Variant in <em>CEP250</em> Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
- Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
- On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice
- Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by <em>OTOA</em> variations
- Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations
- Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene
- Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss
- Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness
- Severe Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4
- Single gene variants causing deafness in Asian Indians
- SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
- Spectrum of Genes for Non-<em>GJB2</em>-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
- Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population
- The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis
- TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling
- Valproic Acid Inhibits Progressive Hereditary Hearing Loss in a KCNQ4 Variant Model through HDAC1 Suppression
- Volumetric Analysis of Hearing-Related Structures of Brain in Children with GJB2-Related Congenital Deafness
- Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss
- Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study