Park JE - Search Results

1

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis.

Lee ES, Jang MA, Kim HD, Park JE, Kim JW, Ohn YH. Lee ES, et al. Among authors: park je. Ann Lab Med. 2019 Jan;39(1):109-112. doi: 10.3343/alm.2019.39.1.109. Ann Lab Med. 2019. PMID: 30215241 Free PMC article. No abstract available.

2

Performance Evaluation of the Real-Q Cytomegalovirus (CMV) Quantification Kit Using Two Real-Time PCR Systems for Quantifying CMV DNA in Whole Blood.

Park JE, Kim JY, Yun SA, Lee MK, Huh HJ, Kim JW, Ki CS. Park JE, et al. Ann Lab Med. 2016 Nov;36(6):603-6. doi: 10.3343/alm.2016.36.6.603. Ann Lab Med. 2016. PMID: 27578516 Free PMC article.

3

Performance of the Real-Q EBV Quantification Kit for Epstein-Barr Virus DNA Quantification in Whole Blood.

Huh HJ, Park JE, Kim JY, Yun SA, Lee MK, Lee NY, Kim JW, Ki CS. Huh HJ, et al. Among authors: park je. Ann Lab Med. 2017 Mar;37(2):147-150. doi: 10.3343/alm.2017.37.2.147. Ann Lab Med. 2017. PMID: 28029001 Free PMC article.

4

First Case of Echinocandin-Resistant Candida albicans in Korea.

Park MS, Park JE, Song DJ, Huh HJ, Park S, Kang CI, Shin JH, Lee NY. Park MS, et al. Among authors: park je, park s. Ann Lab Med. 2017 Nov;37(6):556-558. doi: 10.3343/alm.2017.37.6.556. Ann Lab Med. 2017. PMID: 28841000 Free PMC article. No abstract available.

5

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.

Oh J, Song JS, Park JE, Jang SY, Ki CS, Kim DK. Oh J, et al. Among authors: park je. Ann Lab Med. 2017 Nov;37(6):559-562. doi: 10.3343/alm.2017.37.6.559. Ann Lab Med. 2017. PMID: 28841001 Free PMC article. No abstract available.

6

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).

Park JE, Lee EJ, Ki CS, Kee C. Park JE, et al. Ann Lab Med. 2018 May;38(3):283-286. doi: 10.3343/alm.2018.38.3.283. Ann Lab Med. 2018. PMID: 29401568 Free PMC article. No abstract available.

7

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.

Park JE, Yun SA, Roh EY, Yoon JH, Shin S, Ki CS. Park JE, et al. Ann Lab Med. 2020 Jul;40(4):326-330. doi: 10.3343/alm.2020.40.4.326. Ann Lab Med. 2020. PMID: 32067433 Free PMC article.

8

Genomic Analysis of Korean Patient With Microcephaly.

Lee J, Park JE, Lee C, Kim AR, Kim BJ, Park WY, Ki CS, Lee J. Lee J, et al. Among authors: park je, park wy. Front Genet. 2021 Jan 28;11:543528. doi: 10.3389/fgene.2020.543528. eCollection 2020. Front Genet. 2021. PMID: 33584783 Free PMC article.

9

A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure.

Yeo Y, Park JE, Kwon HS. Yeo Y, et al. Among authors: park je. Ann Lab Med. 2021 Nov 1;41(6):604-607. doi: 10.3343/alm.2021.41.6.604. Ann Lab Med. 2021. PMID: 34108290 Free PMC article. No abstract available.

10

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population.

Park JE, Noh SJ, Oh M, Cho DY, Kim SY, Ki CS. Park JE, et al. Orphanet J Rare Dis. 2018 Mar 15;13(1):40. doi: 10.1186/s13023-018-0779-5. Orphanet J Rare Dis. 2018. PMID: 29544507 Free PMC article.

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