Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss

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Diagnostic pitfalls for -related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss

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scientific article published on 21 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2018

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Diagnostic pitfalls for -relat ...... ngenital profound hearing loss

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Diagnostic pitfalls for -relat ...... ngenital profound hearing loss

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Diagnostic pitfalls for -relat ...... ngenital profound hearing loss

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Diagnostic pitfalls for -relat ...... ngenital profound hearing loss

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Diagnostic pitfalls for -relat ...... ngenital profound hearing loss

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Diagnostic pitfalls for -relat ...... ngenital profound hearing loss

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P1476

Diagnostic pitfalls for GJB2-r ...... ngenital profound hearing loss

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P2093

Hideaki Moteki

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Kozo Kumakawa

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Satoko Abe

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Yoh Yokota

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P2860

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

GJB2 mutations and degree of hearing loss: a multicenter study.

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

Sensorineural hearing loss in children.

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

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2111-2116

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scholarly article

case report

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10.1002/CCR3.1800

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English

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P478

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Shin-Ya Nishio

Shin-Ichi Usami

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2018-09-21T00:00:00Z

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30455902

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diagnosis

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6230644

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