Pages that link to "Q38970459"
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The following pages link to Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene (Q38970459):
Displaying 50 items.
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis (Q22008478) (← links)
- A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness (Q22009151) (← links)
- The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease (Q24540182) (← links)
- 3p-- syndrome defines a hearing loss locus in 3p25.3 (Q24680366) (← links)
- C.35delG/ GJB2 and del(GJB6-D13S1830) mutations in Croatians with prelingual non-syndromic hearing impairment (Q25257125) (← links)
- Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward (Q26799628) (← links)
- The unique electrical properties in an extracellular fluid of the mammalian cochlea; their functional roles, homeostatic processes, and pathological significance. (Q28076301) (← links)
- Connexin-26 mutations in sporadic and inherited sensorineural deafness (Q28117673) (← links)
- Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands (Q28187639) (← links)
- GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review (Q28217345) (← links)
- Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea (Q28254582) (← links)
- Connexin 26 mutations in autosomal recessive deafness disorders: a review (Q28293305) (← links)
- Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals (Q28508885) (← links)
- Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) (Q28552418) (← links)
- Genetics: A New Frontier in Otology. (Q30362238) (← links)
- Localization of septin proteins in the mouse cochlea. (Q30365606) (← links)
- Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene. (Q30370049) (← links)
- Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss (Q30430067) (← links)
- Virally expressed connexin26 restores gap junction function in the cochlea of conditional Gjb2 knockout mice (Q30435650) (← links)
- Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform (Q30438646) (← links)
- Etiology and audiological outcomes at 3 years for 364 children in Australia (Q30455691) (← links)
- Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children (Q30457415) (← links)
- Molecular biology of hearing (Q30467847) (← links)
- Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University (Q30477741) (← links)
- Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss (Q30478094) (← links)
- Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness (Q30478884) (← links)
- A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart (Q30490278) (← links)
- A genotype-phenotype correlation for GJB2 (connexin 26) deafness (Q30495323) (← links)
- Variations in genetic assessment and recurrence risks quoted for childhood deafness: a survey of clinical geneticists (Q30495354) (← links)
- Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound (Q30543886) (← links)
- Molecular dynamics simulations highlight structural and functional alterations in deafness-related M34T mutation of connexin 26. (Q30573245) (← links)
- Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death (Q30578611) (← links)
- A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays (Q30651566) (← links)
- Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency (Q30898157) (← links)
- A gene-driven approach to the identification of ENU mutants in the mouse (Q31039073) (← links)
- Genome-scale analysis identifies GJB2 and ERO1LB as prognosis markers in patients with pancreatic cancer (Q33591508) (← links)
- Beginning of a molecular era in hearing and deafness (Q33639128) (← links)
- Deafness genes: expressions of surprise (Q33650503) (← links)
- Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child (Q33656344) (← links)
- Pathogenetic role of the deafness-related M34T mutation of Cx26. (Q33691804) (← links)
- Examining the relationship between genetic counselors' attitudes toward deaf people and the genetic counseling session (Q33706724) (← links)
- Science, medicine, and the future: New interventions in hearing impairment (Q33800062) (← links)
- Connexin gene mutations in human genetic diseases. (Q33892851) (← links)
- Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region. (Q33912298) (← links)
- Deaf adults' reasons for genetic testing depend on cultural affiliation: results from a prospective, longitudinal genetic counseling and testing study (Q33986096) (← links)
- Gap junctions. (Q34020827) (← links)
- Connexin mutations in skin disease and hearing loss (Q34141214) (← links)
- Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT. (Q34142697) (← links)
- Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss (Q34203606) (← links)
- Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus (Q34261785) (← links)