- From Genetic Testing to Treatment and Prevention of BRCA-Related Breast Cancer
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Ki CS
- KMID: 2460906
- Ann Lab Med.
- 2020 Mar;40(2):99-100.
- doi: 10.3343/alm.2020.40.2.99
No abstract available. -
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- Erratum: Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders
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Kim YE, Ki CS, Jang MA
- KMID: 2450963
- Ann Lab Med.
- 2019 Nov;39(6):606-606.
- doi: 10.3343/alm.2019.39.6.606
This erratum is being published to revise the website address of the Korean Reference Genome Database (KRGDB) and correct two typographical errors in the article. -
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- A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T; 6843G>C] causes a Coffin–Siris Syndrome
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Lee CG, Ki CS
- KMID: 2512698
- Ann Lab Med.
- 2021 May;41(3):350-353.
- doi: 10.3343/alm.2021.41.3.350
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- De Novo SCN8A Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype
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Kim E, Ki CS, Park S, Lee KY
- KMID: 2504763
- Ann Child Neurol.
- 2020 Jul;28(3):118-121.
- doi: 10.26815/acn.2020.00024
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- A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features
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Lee N, Jeong JE, Kim YH, Ki CS, Kim JK
- KMID: 2549333
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S17-S19.
- doi: 10.6065/apem.2244106.053
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- CyCD3+MPO- Biphenotypic Leukemia With Unusual Presentation: A Case Report
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Woo HY, Lee YW, Jeong GY, Ki CS, Yoon HR, Yoon SS, Yang YS, Oh WI, Kim SH
- KMID: 2143376
- Korean J Hematol.
- 1999 Aug;34(3):496-500.
No abstract available. -
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- A clinical assessment on the effectiveness of trimebutine meleate(polybutine) in the irritable bowel syndrome
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Lee S, Yoon SJ, Ham JS, Lee JC, Lee MH, Lee DH, Ki CS, Park KN
- KMID: 2240746
- Korean J Gastroenterol.
- 1993 Dec;25(6):1156-1162.
No abstract available. -
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- Is Cross-reactivity with Nontuberculous Mycobacteria a Systematic Problem in the Xpert MTB/RIF Assay?
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Huh HJ, Song DJ, Ki CS, Lee NY
- KMID: 2441735
- Tuberc Respir Dis.
- 2019 Jan;82(1):88-89.
- doi: 10.4046/trd.2018.0075
No abstract available. -
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- Penicillium Species Other Than Talaromyces marneffei Producing Red Pigment from Clinical Specimens: Isolation of Talaromyces albobiverticillius
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Ryu MR, Yoo IY, Song DJ, Huh HJ, Ki CS, Lee NY
- KMID: 2389663
- Lab Med Online.
- 2017 Oct;7(4):211-214.
- doi: 10.3343/lmo.2017.7.4.211
No abstract available. -
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- Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease (RMRP) Gene Variants: The First Case in Korea
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Namgoong H, Ki CS, Hyun H, Yoo IH, Cho WK, Lee JH, Oh JH
- KMID: 2512697
- Ann Lab Med.
- 2021 May;41(3):346-349.
- doi: 10.3343/alm.2021.41.3.346
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- PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)
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Park JE, Lee EJ, Ki CS, Kee C
- KMID: 2403467
- Ann Lab Med.
- 2018 May;38(3):283-286.
- doi: 10.3343/alm.2018.38.3.283
No abstract available. -
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- The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
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Park S, Jeon BR, Lee YK, Ki CS, Jang MA
- KMID: 2502578
- Ann Lab Med.
- 2020 Sep;40(5):435-437.
- doi: 10.3343/alm.2020.40.5.435
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- COVID-19 Testing in South Korea: Current Status and the Need for Faster Diagnostics
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Kim YJ, Sung H, Ki CS, Hur M
- KMID: 2502564
- Ann Lab Med.
- 2020 Sep;40(5):349-350.
- doi: 10.3343/alm.2020.40.5.349
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- Development of Crohn’s Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant
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Kim ES, Song JS, Ki CS, Choe YH, Kang B
- KMID: 2512676
- Ann Lab Med.
- 2021 Mar;41(2):255-257.
- doi: 10.3343/alm.2021.41.2.255
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- ERRATUM
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Kim HJ, Jang JH, Yoo EH, Kim HJ, Ki CS, Kim JW, Kim SH
- KMID: 1781683
- Korean J Lab Med.
- 2010 Dec;30(6):734-734.
- doi: 10.3343/kjlm.2010.30.6.734
No abstract available. -
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- Facioscapulohumeral Muscular Dystrophy Confirmedby D4Z4 Analysis
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Lee SC, Ki CS, Lee SH, Im HK, Koh SH, Lee KY, Lee YJ
- KMID: 2185082
- J Korean Neurol Assoc.
- 2008 Aug;26(3):292-294.
No abstract available. -
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- Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa
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Kim HT, Jang JH, Kang K, Ki CS, Chung H
- KMID: 2407565
- Lab Med Online.
- 2018 Apr;8(2):66-70.
- doi: 10.3343/lmo.2018.8.2.66
No abstract available. -
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- A Case of Cruoricaptor ignavus Isolated From the Blood of a Patient With Ewing Sarcoma
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Oh J, Yoo IY, Song DJ, Lee JW, Kim YJ, Ki CS, Lee NY, Huh HJ
- KMID: 2429131
- Ann Lab Med.
- 2018 Nov;38(6):613-615.
- doi: 10.3343/alm.2018.38.6.613
No abstract available. -
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- A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene
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Oh J, Song JS, Park JE, Jang SY, Ki CS, Kim DK
- KMID: 2426004
- Ann Lab Med.
- 2017 Nov;37(6):559-562.
- doi: 10.3343/alm.2017.37.6.559
No abstract available. -
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- Identification of MECP2 Duplication Using Low-Depth Whole-Genome Sequencing-Based Copy Number Variation Analysis
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Jang MA, Park S, Park JE, Kim YE, Ki CS
- KMID: 2512248
- Lab Med Online.
- 2020 Apr;10(2):165-168.
- doi: 10.3343/lmo.2020.10.2.165
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