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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

202 related items for PubMed ID: 27177047

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  • 4. Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
    Domínguez-Ruiz M, Rodríguez-Ballesteros M, Gandía M, Gómez-Rosas E, Villamar M, Scimemi P, Mancini P, Rendtorff ND, Moreno-Pelayo MA, Tranebjaerg L, Medà C, Santarelli R, Del Castillo I.
    Genes (Basel); 2022 Jan 15; 13(1):. PubMed ID: 35052489
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  • 7. Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.
    Wang J, Fan YY, Wang SJ, Liang PF, Wang JL, Qiu JH.
    PLoS One; 2011 Jan 15; 6(9):e24000. PubMed ID: 21935370
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  • 8. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
    Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, Martín M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, del Castillo I.
    Hum Mutat; 2008 Jun 15; 29(6):823-31. PubMed ID: 18381613
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  • 16. OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
    Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ.
    J Med Genet; 2006 Jul 15; 43(7):576-81. PubMed ID: 16371502
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  • 17. [Mutational analysis of candidate genes in a Chinese pedigree with dominantly inherited auditory neuropathy].
    Lu X, Chen R, Lu Y, Wei Q, Chen Z, Cao X, Xing G.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2012 May 15; 26(10):455-8. PubMed ID: 22870719
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