Disease: Deafness- neurosensory- autosomal recessive 47
- <em>PTRH2</em> Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
- A clinicopathological study of Alport syndrome and detection of type IV collagen chains in Alport patients
- A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation
- A novel connexin 26 mutation associated with autosomal recessive sensorineural deafness
- A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia
- A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom
- A Review of CRISPR Tools for Treating Usher Syndrome: Applicability, Safety, Efficiency, and In Vivo Delivery
- Alport syndrome. Molecular genetic aspects
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
- Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)
- Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients
- Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity
- Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity
- Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
- Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation
- Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
- Consanguinity and hearing impairment in developing countries: a custom to be discouraged
- Deafness genes
- 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
- Different cellular and genetic basis of noise-related endocochlear potential reduction in CBA/J and BALB/cJ mice
- Discrepancies between video head impulse and caloric tests in patients with enlarged vestibular aqueduct
- EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness
- Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population
- Etiologies of hearing loss in Fanconi Anemia
- Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis
- Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness
- Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
- Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature
- Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
- Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging
- Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss
- Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey
- Molecular analysis of the PDS gene in Pendred syndrome
- Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China
- Molecular study of patients with auditory neuropathy
- Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
- New CRISPR Tools to Correct Pathogenic Mutations in Usher Syndrome
- Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa
- Patterns of neurological manifestations in Woodhouse-Sakati Syndrome
- Prevalence of the 35delG mutation in the GJB2 gene in two samples of non-syndromic deaf subjects from Chile
- Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23
- Successful large gene augmentation of USH2A with non-viral episomal vectors
- The Jervell and Lange-Nielsen syndrome
- The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family
- The Phenotypic Spectrum of <em>COL4A3</em> Heterozygotes
- The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline
- Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study
- Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction
- Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review
- Usherin defects lead to early-onset retinal dysfunction in zebrafish
- Vici syndrome associated with sensorineural hearing loss and laryngomalacia