| scholarly article | Q13442814 |
| P50 | author | Mustafa Tekin | Q58979405 |
| Arti Pandya | Q89750479 | ||
| Alexander O'Brien | Q89750480 | ||
| Güney Bademci | Q46520424 | ||
| P2093 | author name string | Kathleen S Arnos | |
| Michael Kovasala | |||
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| Genetics of non syndromic hearing loss in the republic of macedonia | Q41926500 | ||
| Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders | Q41968817 | ||
| A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment. | Q43073195 | ||
| GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico | Q43605404 | ||
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| [Prevalence of the 35delG mutation in the GJB2 gene, del (GJB6-D13S1830) in the GJB6 gene, Q829X in the OTOF gene and A1555G in the mitochondrial 12S rRNA gene in subjects with non-syndromic sensorineural hearing impairment of congenital/childhood o | Q44086737 | ||
| A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort | Q44380931 | ||
| The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30. | Q44697326 | ||
| The genetics of deafness | Q44894111 | ||
| Infant hearing loss and connexin testing in a diverse population | Q44910321 | ||
| Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness | Q45089447 | ||
| Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. | Q47287246 | ||
| Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment | Q47588231 | ||
| Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment | Q47737072 | ||
| The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects | Q47940125 | ||
| Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations | Q48154379 | ||
| Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily | Q50352379 | ||
| Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment | Q50352550 | ||
| Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases | Q50356398 | ||
| Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness | Q50430769 | ||
| Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique. | Q50433419 | ||
| Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss | Q50435378 | ||
| The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. | Q50442870 | ||
| Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort. | Q50447460 | ||
| Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. | Q50447995 | ||
| Coincidence of mutations in different connexin genes in Hungarian patients. | Q50456412 | ||
| The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population | Q50458284 | ||
| Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness. | Q50458517 | ||
| P921 | main subject | hearing loss | Q16035842 |
| P304 | page(s) | e1171 | |
| P577 | publication date | 2020-02-17 | |
| P1433 | published in | Molecular genetics & genomic medicine | Q27724709 |
| P1476 | title | Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families |
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