Disease: Hereditary deafness
- <em>TCOF1</em> Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery
- A case report of esophageal leiomyoma in Alport's syndrome treated with robotic-assisted distal myotomy: A surgical technique to avoid esophagectomy
- A Classical Phenotype of Fabry Disease with Novel Mutation Found by Kidney Biopsy, A Case Report
- A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2
- A novel compound heterozygous PEX1 variant in Heimler syndrome
- A novel method for detecting nine hotspot mutations of deafness genes in one tube
- A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing
- 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
- Analysis of deafness susceptibility gene of neonates in northern Guangdong, China
- 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
- Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in <em>COL11A2</em>
- Case report: mitochondrial diabetes mellitus in a Chinese family due to m.3243A>G
- 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
- Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review
- 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
- Comprehensiveness of online sources for patient education on hereditary hearing impairment
- Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43
- Demographic analysis of hearing impairment based on various parameters in patients with cochlear implant
- Dispersed DNA variants underlie hearing loss in South Florida's minority population
- DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation
- Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome
- Effective treatment of choreaballism due to an <em>MT-CYB</em> variant with haloperidol, tetrabenazine, and antioxidants
- Elderly onset of MELAS carried an M.3243A >G mutation in a female with deafness and visual deficits: A case report
- Engineering of the AAV-Compatible Hair Cell-Specific Small-Size Myo15 Promoter for Gene Therapy in the Inner Ear
- Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers
- 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
- Exploring healthcare barriers and satisfaction levels among deaf individuals in Ecuador: A video-based survey approach
- FGF20
- 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 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 counseling for hearing loss today
- 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
- 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 deafness carrier screening in 9,993 Chinese individuals
- High-throughput analysis of CLIC5 interactants using a thermal-stability assay
- 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
- Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury
- Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families
- Metastasis Associated in Colorectal Cancer 1 (MACC1) mRNA Expression Is Enhanced in Sporadic Vestibular Schwannoma and Correlates to Deafness
- 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
- Neurological presentations of inborn errors of purine and pyrimidine metabolism
- 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
- Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
- 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
- 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
- Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study
- Recent advances and future challenges in gene therapy for hearing loss
- Research progress in diagnosis and treatment of hereditary hearing loss
- Research progress on hereditary endocrine and metabolic diseases associated with sensorineural hearing loss
- Research progress on incomplete partition type 3 inner ear malformation
- Retracted: The Effectiveness of Cochlear Implantation for Children of Hereditary Deafness: A Multicenter Retrospective Study
- 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
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
- Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study
- The actin cytoskeleton in hair bundle development and hearing loss
- The Cochlear Matrisome: Importance in Hearing and Deafness
- The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
- The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report
- The historical demography of the Martha's Vineyard signing community
- The human OPA1<sup>delTTAG</sup> mutation induces adult onset and progressive auditory neuropathy in mice
- The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
- The Inheritance of Hearing Loss and Deafness: A Historical Perspective
- The Opportunities and Challenges of Gene Therapy for Treatment of Inherited Forms of Vision and Hearing Loss
- Unraveling haplotype errors in the DFNA33 locus
- Using PGT to give birth to hereditary conductive deafness SYNS1 family a healthy offspring: a case report
- Vohwinkel Syndrome
- Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report