Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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name

Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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P1476

Screening of genetic alteratio ...... ng MassARRAY iPLEX® technology

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P2093

Arthur Menino Castilho

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Edi Lúcia Sartorato

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Fábio Tadeu Arrojo Martins

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Maria Carolina Costa Melo Svidnicki

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Nathalia Zocal Pereira dos Santos

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Priscila Zonzini Ramos

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Sueli Matilde Silva-Costa

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P2860

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss

Autosomal recessive nonsyndromic deafness genes: a review

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings

Diagnostic tests. 1: Sensitivity and specificity

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele

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s12881-015-0232-8

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scholarly article

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10.1186/S12881-015-0232-8

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2015-09-23T00:00:00Z

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282118262

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26399936

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