Rim JH - Search Results

1

In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model.

Noh B, Rim JH, Gopalappa R, Lin H, Kim KM, Kang MJ, Gee HY, Choi JY, Kim HH, Jung J. Noh B, et al. Among authors: rim jh. Theranostics. 2022 Feb 28;12(5):2465-2482. doi: 10.7150/thno.67781. eCollection 2022. Theranostics. 2022. PMID: 35265220 Free PMC article.

2

Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013).

Rim JH, Youk T, Kang JG, Park BK, Gee HY, Kim JH, Yoo J. Rim JH, et al. Sci Rep. 2017 Jun 5;7(1):2804. doi: 10.1038/s41598-017-03134-9. Sci Rep. 2017. PMID: 28584248 Free PMC article.

3

Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Rim JH, Lee ST, Gee HY, Lee BJ, Choi JR, Park HW, Han SH, Han J. Rim JH, et al. JAMA Ophthalmol. 2017 Dec 1;135(12):1376-1385. doi: 10.1001/jamaophthalmol.2017.4859. JAMA Ophthalmol. 2017. PMID: 29145603 Free PMC article.

4

ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.

Cho KJ, Noh SH, Han SM, Choi WI, Kim HY, Yu S, Lee JS, Rim JH, Lee MG, Hildebrandt F, Gee HY. Cho KJ, et al. Among authors: rim jh. PLoS Genet. 2018 Mar 30;14(3):e1007316. doi: 10.1371/journal.pgen.1007316. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29601588 Free PMC article.

5

Effects of Cold Agglutinin on the Accuracy of Complete Blood Count Results and Optimal Sample Pretreatment Protocols for Eliminating Such Effects.

Rim JH, Chang MH, Oh J, Gee HY, Kim JH, Yoo J. Rim JH, et al. Ann Lab Med. 2018 Jul;38(4):371-374. doi: 10.3343/alm.2018.38.4.371. Ann Lab Med. 2018. PMID: 29611389 Free PMC article. No abstract available.

6

A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction.

Yu S, Choi HJ, Lee JS, Lee HJ, Rim JH, Choi JY, Gee HY, Jung J. Yu S, et al. Among authors: rim jh. Eur J Med Genet. 2019 Jan;62(1):81-84. doi: 10.1016/j.ejmg.2018.05.018. Epub 2018 May 22. Eur J Med Genet. 2019. PMID: 29800624

7

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Jung J, Choi HB, Koh YI, Rim JH, Choi HJ, Kim SH, Lee JH, An J, Kim A, Lee JS, Joo SY, Yu S, Choi JY, Kang TM, Gee HY. Jung J, et al. Among authors: rim jh. Sci Rep. 2018 Nov 9;8(1):16659. doi: 10.1038/s41598-018-34876-9. Sci Rep. 2018. PMID: 30413759 Free PMC article.

8

A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.

Shin DH, Jung J, Koh YI, Rim JH, Lee JS, Choi HJ, Joo SY, Yu S, Cha DH, Lee SY, Lee JH, Lee MG, Choi JY, Gee HY. Shin DH, et al. Among authors: rim jh. Hum Mutat. 2019 Mar;40(3):335-346. doi: 10.1002/humu.23698. Epub 2018 Dec 25. Hum Mutat. 2019. PMID: 30556268

9

Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.

Lee JM, Shin J, Kim S, Gee HY, Lee JS, Cha DH, Rim JH, Park SJ, Kim JH, Uçar A, Kronbichler A, Lee KH, Shin JI. Lee JM, et al. Among authors: rim jh. Biomed Res Int. 2018 Nov 21;2018:1250721. doi: 10.1155/2018/1250721. eCollection 2018. Biomed Res Int. 2018. PMID: 30584530 Free PMC article.

10

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.

Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F. Choi YJ, et al. Among authors: rim jh. Am J Hum Genet. 2019 Jan 3;104(1):45-54. doi: 10.1016/j.ajhg.2018.11.003. Am J Hum Genet. 2019. PMID: 30609407 Free PMC article.

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