Lee KY - Search Results

1

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing.

Ryu N, Lee S, Park HJ, Lee B, Kwon TJ, Bok J, Park CI, Lee KY, Baek JI, Kim UK. Ryu N, et al. Among authors: lee ky, lee s, lee b. Gene. 2017 Sep 5;627:233-238. doi: 10.1016/j.gene.2017.06.040. Epub 2017 Jun 21. Gene. 2017. PMID: 28647561

2

Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss.

Bae JW, Lee KY, Choi SY, Lee SH, Park HJ, Kim UK. Bae JW, et al. Among authors: lee sh, lee ky. Int J Mol Med. 2008 Aug;22(2):175-80. Int J Mol Med. 2008. PMID: 18636170

3

Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.

Choi SY, Park HJ, Lee KY, Dinh EH, Chang Q, Ahmad S, Lee SH, Bok J, Lin X, Kim UK. Choi SY, et al. Among authors: lee sh, lee ky. Hum Mutat. 2009 Jul;30(7):E716-27. doi: 10.1002/humu.21036. Hum Mutat. 2009. PMID: 19384972

4

A Family of H723R Mutation for SLC26A4 Associated with Enlarged Vestibular Aqueduct Syndrome.

Kim S, Song DG, Bae JW, Choi SY, Kim UK, Choi YJ, Lee KY, Lee SH, Lee JR. Kim S, et al. Among authors: lee sh, lee jr, lee ky. Clin Exp Otorhinolaryngol. 2009 Jun;2(2):100-2. doi: 10.3342/ceo.2009.2.2.100. Epub 2009 Jun 29. Clin Exp Otorhinolaryngol. 2009. PMID: 19565036 Free PMC article.

5

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.

Lee HK, Song MH, Kang M, Lee JT, Kong KA, Choi SJ, Lee KY, Venselaar H, Vriend G, Lee WS, Park HJ, Kwon TK, Bok J, Kim UK. Lee HK, et al. Among authors: lee jt, lee ws, lee ky. Physiol Genomics. 2009 Nov 6;39(3):195-201. doi: 10.1152/physiolgenomics.00100.2009. Epub 2009 Aug 11. Physiol Genomics. 2009. PMID: 19671658

6

Application of allele-specific primer extension-based microarray for simultaneous multi-gene mutation screening in patients with non-syndromic hearing loss.

Choi SY, Lee KY, Kim YE, Bae JW, Oh SK, Kim SY, Hwang SJ, Kim UK, Lee SH. Choi SY, et al. Among authors: lee sh, lee ky. Int J Mol Med. 2010 Mar;25(3):315-20. doi: 10.3892/ijmm_00000347. Int J Mol Med. 2010. PMID: 20127034

7

A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.

Lee HK, Park HJ, Lee KY, Park R, Kim UK. Lee HK, et al. Among authors: lee ky. Biochem Biophys Res Commun. 2010 Jun 4;396(3):626-30. doi: 10.1016/j.bbrc.2010.04.132. Epub 2010 Apr 29. Biochem Biophys Res Commun. 2010. PMID: 20434433

8

Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.

Baek JI, Park HJ, Park K, Choi SJ, Lee KY, Yi JH, Friedman TB, Drayna D, Shin KS, Kim UK. Baek JI, et al. Among authors: lee ky. Biochim Biophys Acta. 2011 Apr;1812(4):536-43. doi: 10.1016/j.bbadis.2010.09.001. Epub 2010 Sep 9. Biochim Biophys Acta. 2011. PMID: 20832469 Free article.

9

Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.

Sagong B, Park R, Kim YH, Lee KY, Baek JI, Cho HJ, Cho IJ, Kim UK, Lee SH. Sagong B, et al. Among authors: lee sh, lee ky. Ann Clin Lab Sci. 2010 Fall;40(4):380-5. Ann Clin Lab Sci. 2010. PMID: 20947814

10

Functional evaluation of GJB2 variants in nonsyndromic hearing loss.

Choi SY, Lee KY, Kim HJ, Kim HK, Chang Q, Park HJ, Jeon CJ, Lin X, Bok J, Kim UK. Choi SY, et al. Among authors: lee ky. Mol Med. 2011 May-Jun;17(5-6):550-6. doi: 10.2119/molmed.2010.00183. Epub 2011 Jan 8. Mol Med. 2011. PMID: 21298213 Free PMC article.

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