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Year | Number of Results |
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2008 | 1 |
2009 | 1 |
2012 | 1 |
2016 | 1 |
2024 | 0 |
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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.
Hum Mutat. 2008.
PMID: 18381613
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
Choi BY, Ahmed ZM, Riazuddin S, Bhinder MA, Shahzad M, Husnain T, Riazuddin S, Griffith AJ, Friedman TB.
Choi BY, et al.
Clin Genet. 2009 Mar;75(3):237-43. doi: 10.1111/j.1399-0004.2008.01128.x.
Clin Genet. 2009.
PMID: 19250381
Free PMC article.
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A prevalent founder mutation and genotype-phenotype correlations of OTOF in Japanese patients with auditory neuropathy.
Matsunaga T, Mutai H, Kunishima S, Namba K, Morimoto N, Shinjo Y, Arimoto Y, Kataoka Y, Shintani T, Morita N, Sugiuchi T, Masuda S, Nakano A, Taiji H, Kaga K.
Matsunaga T, et al.
Clin Genet. 2012 Nov;82(5):425-32. doi: 10.1111/j.1399-0004.2012.01897.x. Epub 2012 Jun 1.
Clin Genet. 2012.
PMID: 22575033
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Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.
Dallol A, Daghistani K, Elaimi A, Al-Wazani WA, Bamanie A, Safiah M, Sagaty S, Taha L, Zahed R, Bajouh O, Chaudhary AG, Gari MA, Turki R, Al-Qahtani MH, Abuzenadah AM.
Dallol A, et al.
BMC Med Genet. 2016 Oct 10;17(Suppl 1):67. doi: 10.1186/s12881-016-0329-8.
BMC Med Genet. 2016.
PMID: 27766948
Free PMC article.
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