Baek JI - Search Results

1

Pannexin 3 is required for normal progression of skeletal development in vertebrates.

Oh SK, Shin JO, Baek JI, Lee J, Bae JW, Ankamerddy H, Kim MJ, Huh TL, Ryoo ZY, Kim UK, Bok J, Lee KY. Oh SK, et al. Among authors: baek ji. FASEB J. 2015 Nov;29(11):4473-84. doi: 10.1096/fj.15-273722. Epub 2015 Jul 16. FASEB J. 2015. PMID: 26183770

2

Significant association of SREBP-2 genetic polymorphisms with avascular necrosis in the Korean population.

Kim TH, Baek JI, Hong JM, Choi SJ, Lee HJ, Cho HJ, Park EK, Kim UK, Kim SY. Kim TH, et al. Among authors: baek ji. BMC Med Genet. 2008 Oct 27;9:94. doi: 10.1186/1471-2350-9-94. BMC Med Genet. 2008. PMID: 18954446 Free PMC article.

3

Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy.

Baek JI, Choi SJ, Park SH, Choi JY, Kim CD, Kim YL, Kim UK. Baek JI, et al. Indian J Med Res. 2009 May;129(5):525-33. Indian J Med Res. 2009. PMID: 19675380 Free article.

4

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.

Park HJ, Cho HJ, Baek JI, Ben-Yosef T, Kwon TJ, Griffith AJ, Kim UK. Park HJ, et al. Among authors: baek ji. J Hum Genet. 2010 Jan;55(1):59-62. doi: 10.1038/jhg.2009.114. Epub 2009 Nov 13. J Hum Genet. 2010. PMID: 19911014 Free PMC article.

5

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. 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.

6

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: baek ji. Ann Clin Lab Sci. 2010 Fall;40(4):380-5. Ann Clin Lab Sci. 2010. PMID: 20947814

7

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK. Cho HJ, et al. Among authors: baek ji. J Mol Med (Berl). 2012 Nov;90(11):1321-1331. doi: 10.1007/s00109-012-0911-2. Epub 2012 May 19. J Mol Med (Berl). 2012. PMID: 22610276 Free PMC article.

8

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

Baek JI, Oh SK, Kim DB, Choi SY, Kim UK, Lee KY, Lee SH. Baek JI, et al. Orphanet J Rare Dis. 2012 Sep 3;7:60. doi: 10.1186/1750-1172-7-60. Orphanet J Rare Dis. 2012. PMID: 22938506 Free PMC article.

9

A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.

Sagong B, Baek JI, Oh SK, Na KJ, Bae JW, Choi SY, Jeong JY, Choi JY, Lee SH, Lee KY, Kim UK. Sagong B, et al. Among authors: baek ji. PLoS One. 2013;8(3):e57237. doi: 10.1371/journal.pone.0057237. Epub 2013 Mar 1. PLoS One. 2013. PMID: 23469187 Free PMC article.

10

Genetic analysis of auditory neuropathy spectrum disorder in the Korean population.

Bae SH, Baek JI, Lee JD, Song MH, Kwon TJ, Oh SK, Jeong JY, Choi JY, Lee KY, Kim UK. Bae SH, et al. Among authors: baek ji. Gene. 2013 Jun 10;522(1):65-9. doi: 10.1016/j.gene.2013.02.057. Epub 2013 Apr 4. Gene. 2013. PMID: 23562982

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