Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families ; volume:14 ; number:1 ; day:17 ; month:7 ; year:2013 ; pages:1-7 ; date:12.2013
BMC medical genetics ; 14, Heft 1 (17.7.2013), 1-7, 12.2013

Creator: Woo, Hae-Mi

Contributor: Park, Hong-Joon
Baek, Jeong-In
Park, Mi-Hyun
Kim, Un-Kyung
Sagong, Borum
Koo, Soo Kyung
SpringerLink (Online service)

DOI: 10.1186/1471-2350-14-72

URN: urn:nbn:de:1111-2016071517167

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:55 AM CEST

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Associated

Woo, Hae-Mi
Park, Hong-Joon
Baek, Jeong-In
Park, Mi-Hyun
Kim, Un-Kyung
Sagong, Borum
Koo, Soo Kyung
SpringerLink (Online service)

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Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families

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Other Objects (12)

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

Autosomal recessive cerebellar ataxias

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

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Autosomal recessive cerebellar ataxias

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Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

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Autosomal recessive cerebellar ataxias

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

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