(Q21261480)

17 August 2022

Hae-Mi Woo

1

Hae-Mi

Woo

1 reference

17 August 2022

Hong-Joon Park

2

Hong-Joon

Park

1 reference

17 August 2022

Mi-Hyun Park

3

Mi-Hyun

Park

1 reference

17 August 2022

Bo-Young Kim

4

Bo-Young

Kim

1 reference

17 August 2022

Joong-Wook Shin

5

Joong-Wook

Shin

1 reference

17 August 2022

Soo Kyung Koo

7

Soo Kyung

Koo

1 reference

TIARA: a database for accurate analysis of multiple personal genomes based on cross-technology

17 August 2022

language of work or name

English

0 references

publication date

2014

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published in

BMC Medical Genetics

0 references

volume

15

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issue

1

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page(s)

46

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Structural basis of calcium-induced E-cadherin rigidification and dimerization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

The cadherin superfamily: diversity in form and function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Sensorineural hearing loss in children.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Cadherin 23 is a component of the tip link in hair-cell stereocilia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4036425

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

27 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-15-46

Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-15-46

21 January 2018

Identifiers

DOI

10.1186/1471-2350-15-46

1 reference

0 references

1 reference

1 reference

PubMed publication ID

24767429

1 reference