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Journal Abstract Search

184 related items for PubMed ID: 38844983

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  • 2. Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing.
    Rezaie N, Mansour Samaei N, Oladnabi M.
    Mol Biol Rep; 2024 May 20; 51(1):662. PubMed ID: 38767670
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  • 4. Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.
    Elsayed O, Al-Shamsi A.
    Mol Genet Genomic Med; 2022 Nov 20; 10(11):e2052. PubMed ID: 36056583
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  • 6. Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non-syndromic hearing loss detected by gene panel NGS and whole-exome sequencing.
    Safka Brozkova D, Poisson Marková S, Mészárosová AU, Jenčík J, Čejnová V, Čada Z, Laštůvková J, Rašková D, Seeman P.
    Clin Genet; 2020 Dec 20; 98(6):548-554. PubMed ID: 32860223
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  • 7. Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.
    Parzefall T, Frohne A, Koenighofer M, Kirchnawy A, Streubel B, Schoefer C, Frei K, Lucas T.
    Eur Arch Otorhinolaryngol; 2017 Oct 20; 274(10):3619-3625. PubMed ID: 28821934
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  • 9. Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
    Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, Liu Y.
    Genet Test Mol Biomarkers; 2016 Nov 20; 20(11):660-665. PubMed ID: 27610647
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  • 10. Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.
    Salman M, Bashir R, Imtiaz A, Maqsood A, Mujtaba G, Iqbal M, Naz S.
    Eur Arch Otorhinolaryngol; 2015 Aug 20; 272(8):2071-5. PubMed ID: 25636251
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  • 11. 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.
    Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T, Otto PA, Mingroni-Netto RC.
    Ear Hear; 2009 Feb 20; 30(1):1-7. PubMed ID: 19125024
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  • 12. Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.
    Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T.
    Genet Med; 2014 Dec 20; 16(12):945-53. PubMed ID: 24875298
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  • 16. Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
    Khan H, Muzaffar F, Salman M, Bashir R, Seo GH, Naz S.
    Sci Rep; 2024 Sep 13; 14(1):21412. PubMed ID: 39271758
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  • 18. Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
    Yu X, Lin Y, Xu J, Che T, Li L, Yang T, Wu H.
    Orphanet J Rare Dis; 2020 Jan 28; 15(1):29. PubMed ID: 31992338
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