Disease: Hereditary hearing loss
- <em>DNAJC30</em> Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients
- A homozygous <em>SP7/OSX</em> mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies
- 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 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
- Alport Syndrome and Oral Mucous Membrane Pemphigoid: An Interesting Case
- Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis
- Analysis of deafness susceptibility gene of neonates in northern Guangdong, China
- ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
- Autosomal dominant non-syndromic hearing loss caused by a novel mutation in <em>MYO7A</em>: 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
- Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan
- Clinical and genetic analysis of a child with X-linked dominant Alport syndrome
- Combined AAV-mediated gene replacement therapy improves auditory function in a mouse model of human DFNB42 deafness
- 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
- Critical role of TPRN rings in the stereocilia for hearing
- Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
- Demyelination and Na<sup>+</sup> Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice
- Dispersed DNA variants underlie hearing loss in South Florida's minority population
- Elderly onset of MELAS carried an M.3243A >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 a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells
- Finding a window for gene therapy for hereditary deafness
- Functional Consequences of Pathogenic Variants of the <em>GJB2</em> Gene (Cx26) Localized in Different Cx26 Domains
- Functional Studies of Deafness-Associated Pendrin and Prestin Variants
- Gene Therapy for Inherited Hearing Loss: Updates and Remaining Challenges
- Genetic analysis of a patient with Alport syndrome due to compound heterozygous variants of COL4A4 gene
- Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
- 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 testing and prenatal diagnosis for a Chinese pedigree affected with Waardenburg syndrome type 4C due to heterozygous deletion of SOX10 gene
- Genetically modified pigs: Emerging animal models for hereditary hearing loss
- 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
- Hereditary Hearing Loss: A Systematic Review of Potential Treatments and Interventions
- Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report
- Hidden hearing loss in a hereditary peripheral neuropathy: evidence from a mouse model of Charcot Marie Tooth type 1A
- High-frequency hearing vulnerability associated with the different supporting potential of Hensen's cells: SMART-Seq2 RNA sequencing
- Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
- Identification of a novel compound heterozygous pathogenic variant in <em>MYO7A</em> causing Usher syndrome type IB in a Chinese patient: a case report
- Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic 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
- Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury
- Marshall syndrome
- Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure
- Mitochondrial tRNA(Ser(UCN)) mutations associated non-syndromic sensorineural hearing loss in Chinese families
- Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy
- 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
- Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China
- NADH improves AIF dimerization and inhibits apoptosis in iPSCs-derived neurons from patients with auditory neuropathy spectrum disorder
- New classification and approaches to the treatment of schwannomatosis
- Next-generation sequencing for genetic testing of hearing loss populations
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the <em>SLC26A4</em> gene: a case report and literature review
- 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 GPR156 variants confirm its role in moderate sensorineural hearing loss
- Novel Variant in <em>CEP250</em> Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
- 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
- Preclinical evaluation of the efficacy and safety of AAV1-hOTOF in mice and nonhuman primates
- Predicting the Impact of OTOF Gene Missense Variants on Auditory Neuropathy Spectrum Disorder
- Repeat expansions in <em>NOP56</em> are a cause of spinocerebellar ataxia Type 36 in the British population
- 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
- Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
- Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
- Spontaneously reattached bilateral retinal detachment in Stickler syndrome
- Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study
- The Audiological Follow-Up of Children with Symptomatic Congenital Cytomegalovirus Infection: An Experience in Two Italian Centers
- 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 human OPA1<sup>delTTAG</sup> 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 Opportunities and Challenges of Gene Therapy for Treatment of Inherited Forms of Vision and Hearing Loss
- Trigenic COL4A3/COL4A4/COL4A5 pathogenic variants in Alport syndrome: a case report
- Unraveling haplotype errors in the DFNA33 locus
- 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
- What General Neurologists Should Know about Autoinflammatory Syndromes?
- What Is the Role of Sensorineural Hearing Loss in Fabry Disease Screening?