Kim MY - Search Results

1

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.

Oh DY, Matsumoto Y, Kitajiri SI, Kim NKD, Kim MY, Kim AR, Lee M, Lee C, Tomkinson AE, Katsuno T, Kim SY, Shin HW, Han JH, Lee S, Park WY, Choi BY. Oh DY, et al. Among authors: kim nkd, kim ar, kim sy, kim my. Hum Mutat. 2020 May;41(5):913-920. doi: 10.1002/humu.23984. Epub 2020 Jan 30. Hum Mutat. 2020. PMID: 31944473 Free PMC article.

2

Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.

Jang JH, Jung J, Kim AR, Cho YM, Kim MY, Lee SY, Choi JY, Lee JH, Choi BY. Jang JH, et al. Among authors: kim ar, kim my. Audiol Neurootol. 2014;19(5):319-26. doi: 10.1159/000366190. Epub 2014 Oct 24. Audiol Neurootol. 2014. PMID: 25358692

3

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.

Kim NK, Higashi T, Lee KY, Kim AR, Kitajiri S, Kim MY, Chang MY, Kim V, Oh SH, Kim D, Furuse M, Park WY, Choi BY. Kim NK, et al. Among authors: kim v, kim ar, kim d, kim my. PLoS One. 2015 Feb 10;10(2):e0116931. doi: 10.1371/journal.pone.0116931. eCollection 2015. PLoS One. 2015. PMID: 25668204 Free PMC article.

4

Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.

Kim NK, Kim AR, Park KT, Kim SY, Kim MY, Nam JY, Woo SJ, Oh SH, Park WY, Choi BY. Kim NK, et al. Among authors: kim ar, kim sy, kim my. Genet Med. 2015 Nov;17(11):901-11. doi: 10.1038/gim.2014.213. Epub 2015 Feb 26. Genet Med. 2015. PMID: 25719458 Free article.

5

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Kim SY, Kim AR, Han KH, Kim MY, Jeon EH, Koo JW, Oh SH, Choi BY. Kim SY, et al. Among authors: kim ar, kim my. PLoS One. 2015 Jun 10;10(6):e0125416. doi: 10.1371/journal.pone.0125416. eCollection 2015. PLoS One. 2015. PMID: 26061264 Free PMC article.

6

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.

Kim SY, Kim AR, Kim NK, Kim MY, Jeon EH, Kim BJ, Han YE, Chang MY, Park WY, Choi BY. Kim SY, et al. Among authors: kim ar, kim bj, kim my, kim nk. J Transl Med. 2015 Aug 13;13:263. doi: 10.1186/s12967-015-0624-8. J Transl Med. 2015. PMID: 26264712 Free PMC article.

7

Molecular Etiology of Hereditary Single-Side Deafness: Its Association With Pigmentary Disorders and Waardenburg Syndrome.

Kim SH, Kim AR, Choi HS, Kim MY, Chun EH, Oh SH, Choi BY. Kim SH, et al. Among authors: kim ar, kim my. Medicine (Baltimore). 2015 Oct;94(43):e1817. doi: 10.1097/MD.0000000000001817. Medicine (Baltimore). 2015. PMID: 26512583 Free PMC article.

8

Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?

Kim SY, Kim AR, Kim NKD, Lee C, Kim MY, Jeon EH, Park WY, Choi BY. Kim SY, et al. Among authors: kim nkd, kim ar, kim my. Medicine (Baltimore). 2016 Apr;95(14):e3029. doi: 10.1097/MD.0000000000003029. Medicine (Baltimore). 2016. PMID: 27057829 Free PMC article.

9

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.

Han KH, Kim AR, Kim MY, Ahn S, Oh SH, Song JH, Choi BY. Han KH, et al. Among authors: kim ar, kim my. PLoS One. 2016 Sep 1;11(9):e0161756. doi: 10.1371/journal.pone.0161756. eCollection 2016. PLoS One. 2016. PMID: 27583405 Free PMC article.

10

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.

Kim BJ, Kim AR, Lee C, Kim SY, Kim NK, Chang MY, Rhee J, Park MH, Koo SK, Kim MY, Han JH, Oh SH, Park WY, Choi BY. Kim BJ, et al. Among authors: kim ar, kim sy, kim my, kim nk. PLoS One. 2016 Oct 28;11(10):e0165680. doi: 10.1371/journal.pone.0165680. eCollection 2016. PLoS One. 2016. PMID: 27792758 Free PMC article.

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