Kim NK - Search Results

1

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.

2

Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.

Park JH, Kim NK, Kim AR, Rhee J, Oh SH, Koo JW, Nam JY, Park WY, Choi BY. Park JH, et al. Among authors: kim ar, kim nk. Orphanet J Rare Dis. 2014 Nov 6;9:167. doi: 10.1186/s13023-014-0167-8. Orphanet J Rare Dis. 2014. PMID: 25373420 Free PMC article.

3

Atypical hemolytic uremic syndrome: Korean pediatric series.

Lee JM, Park YS, Lee JH, Park SJ, Shin JI, Park YH, Yoo KH, Cho MH, Kim SY, Kim SH, Namgoong MK, Lee SJ, Lee JH, Cho HY, Han KH, Kang HG, Ha IS, Bae JS, Kim NK, Park WY, Cheong HI. Lee JM, et al. Among authors: kim sh, kim sy, kim nk. Pediatr Int. 2015 Jun;57(3):431-8. doi: 10.1111/ped.12549. Epub 2015 Feb 7. Pediatr Int. 2015. PMID: 25443527

4

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.

5

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.

6

Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Lee JM, Ahn YH, Kang HG, Ha II, Lee K, Moon KC, Lee JH, Park YS, Cho YM, Bae JS, Kim NK, Park WY, Cheong HI. Lee JM, et al. Among authors: kim nk. Pediatr Nephrol. 2015 Sep;30(9):1451-8. doi: 10.1007/s00467-015-3068-8. Epub 2015 Mar 1. Pediatr Nephrol. 2015. PMID: 25726036

7

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Ko JM, Bae JS, Choi JS, Miura K, Lee HR, Kim OH, Kim NK, Oh SK, Ozono K, Lee CK, Choi IH, Park WY, Cho TJ. Ko JM, et al. Among authors: kim oh, kim nk. Am J Med Genet A. 2015 May;167A(5):1033-8. doi: 10.1002/ajmg.a.36884. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728306

8

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Yoon CK, Kim NK, Joung JG, Shin JY, Park JH, Eum HH, Lee HO, Park WY, Yu HG. Yoon CK, et al. Among authors: kim nk. BMC Genomics. 2015 Jul 9;16(1):515. doi: 10.1186/s12864-015-1723-x. BMC Genomics. 2015. PMID: 26155838 Free PMC article.

9

Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

Chang MY, Kim AR, Kim NK, Lee C, Lee KY, Jeon WS, Koo JW, Oh SH, Park WY, Kim D, Choi BY. Chang MY, et al. Among authors: kim ar, kim d, kim nk. Mol Cells. 2015 Sep;38(9):781-8. doi: 10.14348/molcells.2015.0078. Epub 2015 Aug 4. Mol Cells. 2015. PMID: 26242193 Free PMC article.

10

Hepatorenal fibrocystic diseases in children.

Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI. Park E, et al. Among authors: kim nk. Pediatr Nephrol. 2016 Jan;31(1):113-9. doi: 10.1007/s00467-015-3185-4. Epub 2015 Aug 11. Pediatr Nephrol. 2016. PMID: 26260382

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