• A base editor for the long-term restoration of auditory function in mice with recessive profound deafness
• A homozygous <em>SP7/OSX</em> mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies
• A Novel <em>COL4A5</em> Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease
• A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
• A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss
• A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II
• A novel method for detecting nine hotspot mutations of deafness genes in one tube
• A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
• A patient with 18p11.32-p11.21 deletion have monaural deafness caused by an inadequate haplodose of THOC1: A case report
• A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish
• Abnormal Innervation, Demyelination, and Degeneration of Spiral Ganglion Neurons as Well as Disruption of Heminodes are Involved in the Onset of Deafness in Cx26 Null Mice
• Advancements and future prospects of adeno-associated virus-mediated gene therapy for sensorineural hearing loss
• Advances in vestibular function and rehabilitation of large vestibular aqueduct syndrome
• Alport Syndrome
• Analysis of deafness susceptibility gene of neonates in northern Guangdong, China
• Assessment of the risk of hearing loss in children with cystic fibrosis
• Case report of a novel mutation in the TNC gene in Chinese patients with nonsyndromic hearing loss
• Clinical Genetic Testing for Hearing Loss: Implications for Genetic Counseling and Gene-Based Therapies
• Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome
• Combined genetic polymorphisms of the GSTT1 and NRF2 genes increase susceptibility to cisplatin-induced ototoxicity: A preliminary study
• Comparative exploration of mammalian deafness gene homologues in the Drosophila auditory organ shows genetic correlation between insect and vertebrate hearing
• Comparison of Bone Cement Fixation for Stapes Prostheses with Different Materials in Endoscopic Primary Stapedectomy
• Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants
• Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
• Contemporary directions in the therapy of sensory hearing loss
• Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration
• Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome
• Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
• Demyelination and Na⁺ Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice
• Elderly onset of MELAS carried an M.3243A &gt;G mutation in a female with deafness and visual deficits: A case report
• Excessive processing and acetylation of OPA1 aggravate age-related hearing loss via the dysregulation of mitochondrial dynamics
• Exploration of Gene Therapy for Alport Syndrome
• Functional Studies of Deafness-Associated Pendrin and Prestin Variants
• Gene therapy for hereditary deafness
• Gene therapy proves successful in treating hereditary deafness
• Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23
• Genetic analysis of 106 sporadic cases with hearing loss in the UAE population
• Genetic and phenotypic analysis of <em>MYO15A</em> rare variants associated with autosomal recessive hearing loss
• Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss
• Genetic counseling for hearing loss today
• Genetic diagnosis of childhood sensorineural hearing loss
• Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
• Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review
• Genetically modified pigs: Emerging animal models for hereditary hearing loss
• Genotype-Phenotype Correlations in Alport Syndrome-A Single-Center Experience
• Hair cell-specific Myo15 promoter-mediated gene therapy rescues hearing in DFNB9 mouse model
• Hearing Loss Among Families with 2 and More Affected Members in Golestan Province, Iran: A Cross-Sectional Study of 320 Families
• Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3
• Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report
• Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model
• Hidden hearing loss in a hereditary peripheral neuropathy: evidence from a mouse model of Charcot Marie Tooth type 1A
• High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect
• High-frequency hearing vulnerability associated with the different supporting potential of Hensen's cells: SMART-Seq2 RNA sequencing
• Identification of a novel compound heterozygous pathogenic variant in <em>MYO7A</em> causing Usher syndrome type IB in a Chinese patient: a case report
• Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing
• Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
• Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss
• Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
• Kidney Cysts in Children With Alport Syndrome: A Report of 3 Cases
• Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations
• Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury
• Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder
• Low-intensity noise exposure takes an essential part in the mechanism of late-onset hereditary hearing loss caused by Abcc1 mutation
• Machine learning-based longitudinal prediction for GJB2-related sensorineural hearing loss
• Marshall syndrome
• Mitochondrial tRNA(Ser(UCN)) mutations associated non-syndromic sensorineural hearing loss in Chinese families
• MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population
• Multidisciplinary management improves the genetic diagnosis of hereditary kidney diseases in the next generation sequencing (NGS) era
• Novel <em>cis</em> compound heterozygous variants in <em>MYO6</em> 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
• Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta
• Otolaryngologic sequelae of Ehlers Danlos Syndrome in pediatric patients
• Pathogenic Variants in <em>USH1G</em>/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome
• Pathophysiology of human hearing loss associated with variants in myosins
• PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids
• Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy
• Research progress in diagnosis and treatment of hereditary hearing loss
• Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss
• Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature
• Retrospective Analysis of the Outcomes of Genetic Testing in Patients Suspected to Have Hereditary Hearing Loss or Deafness
• Screening copy number variations in 35 unsolved inherited retinal disease families
• Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
• Spontaneously reattached bilateral retinal detachment in Stickler syndrome
• Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss
• Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss
• The Auditory Pathway in Congenitally Cytomegalovirus-Infected Human Fetuses
• The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
• The genetics and clinical outcomes in 151 cases of fetal growth restriction: A Chinese single-center study
• The human OPA1^delTTAG mutation induces adult onset and progressive auditory neuropathy in mice
• The Inheritance of Hearing Loss and Deafness: A Historical Perspective
• The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
• The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
• The PATCH study: Prevalence of Hearing Loss During Ageing and Treatment Choices in Osteogenesis Imperfecta: A Danish Nationwide Register-Based Cohort Study
• The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of <em>OTOF</em> gene variations in patients with auditory neuropathy
• Trigenic COL4A3/COL4A4/COL4A5 pathogenic variants in Alport syndrome: a case report
• Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population
• Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders
• Using PGT to give birth to hereditary conductive deafness SYNS1 family a healthy offspring: a case report
• Waardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation