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Showing results 1 to 21 of 21

Issue Date	Title / Author(s) / Citation	File
2016-02	Microevolution of outbreak-associated middle east respiratory syndrome coronavirus, south korea, 2015 Seong, Moon -Woo; Kim, So Yeon; Corman, Victor Max; Kim, Taek Soo; Cho, Sung Im; Kim, Man Jin; Lee, Seung Jun; Lee, Jee-Soo; Seo, Soo Hyun; Ahn, Ji Soo; Yu, Byeong Su; Park, Nare; Oh, Myoung-don; Park, Wan Beom; Lee, Ji Yeon; Kim, Gayeon; Joh, Joon Sung; Jeong, Ina; Kim, Eui Chong; Drosten, Christian; Park, Sung Sup Emerging Infectious Diseases, Vol.22 No.2, pp.327-330	DOI
2016-07	Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma Lee, Jee-Soo; Lee, Ji-Hyun; Lee, Kyu Eun; Kim, Jung Hee; Hong, Joon Mo; Ra, Eun Kyung; Seo, Soo Hyun; Lee, Seung Jun; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo BMC Medical Genetics, 17(1):48	view file DOI
2019-12	Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance Choi, Sun Ah; Cho, Anna; Kim, Soo Yeon; Kim, Woo Joong; Shim, Young Kyu; Lee, Jin Sook; Jang, Se Song; Lim, Byung Chan; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Kim, Man Jin; Seong, Moon-Woo; Chae, Jong-Hee Muscle and Nerve, Vol.60 No.6, pp.668-672	DOI
2020-04	Direct Haplotyping-Based Noninvasive Prenatal Test for Myotonic Dystrophy Type 1 with Large CTG Expansion Lee, Jee-Soo; Lee, Kyung Bok; Song, Han; Sun, ChoongHyun; Kim, Man Jin; Cho, Sung Im; Lee, Young Kyung; Park, Sung Sup; Seong, Moon-Woo Clinical Chemistry, Vol.66 No.4, pp.614-615	DOI
2021-01	Communication: Comparison of Respiratory Specimens for the Detection of SARS-CoV-2 Lee, Jee-Soo; Seo, Myoung-Seock; Gwon, Tae-Rin; Cho, Sung Im; Kim, Young-gon; Kim, Man Jin; Park, Jae Hyeon; Kang, Chang Kyung; Choe, Pyoeng Gyun; Park, Wan Beom; Kim, Nam-Joong; Oh, Myoung-don; Kim, Taek Soo; Park, Sung Sup; Seong, Moon-Woo Annals of Clinical and Laboratory Science, Vol.51 No.1, pp.140-144
2021-06	Longitudinal proteomic profiling provides insights into host response and proteome dynamics in COVID-19 progression Lee, Jee-Soo; Han, Dohyun; Kim, So Yeon; Hong, Ki Ho; Jang, Myoung-jin; Kim, Man Jin; Kim, Young-gon; Park, Jae Hyeon; Cho, Sung Im; Park, Wan Beom; Lee, Kyung Bok; Shin, Ho Seob; Oh, Hyeon Sae; Kim, Taek Soo; Park, Sung Sup; Seong, Moon-Woo Proteomics, Vol.21 No.11-12, p. 2000278	DOI
2021-09	Determination of Clinical Characteristics of Mycobacterium kansasii-Derived Species by Reanalysis of Isolates Formerly Reported as M. kansasii Kim, Young-gon; Lee, Hong Yeul; Kwak, Nakwon; Park, Jae Hyeon; Kim, Taek Soo; Kim, Man Jin; Lee, Jee-Soo; Park, Sung-Sup; Yim, Jae-Joon; Seong, Moon-Woo Annals of Laboratory Medicine, Vol.41 No.5, pp.463-468	DOI
2021-11	Evidence of Severe Acute Respiratory Syndrome Coronavirus 2 Reinfection After Recovery from Mild Coronavirus Disease 2019 Lee, Jee-Soo; Kim, So Yeon; Kim, Taek Soo; Hong, Ki Ho; Ryoo, Nam-Hee; Lee, Jaehyeon; Park, Jae Hyeon; Cho, Sung Im; Kim, Man Jin; Kim, Young-gon; Kim, Boram; Shin, Ho Seob; Oh, Hyeon Sae; Seo, Myoung-Seock; Gwon, Tae-Rin; Kim, Yeonjae; Park, Jun-Sun; Chin, Bum Sik; Park, Wan Beom; Park, Sung Sup; Seong, Moon-Woo Clinical Infectious Diseases, Vol.73 No.9, pp.E3002-E3008	DOI
2022-01	SARS-CoV-2 shedding dynamics and transmission in immunosuppressed patients Lee, Jee-Soo; Yun, Ki Wook; Jeong, Hyeonju; Kim, Boram; Kim, Man Jin; Park, Jae Hyeon; Shin, Ho Seob; Oh, Hyeon Sae; Sung, Hobin; Song, Myung Gi; Cho, Sung Im; Kim, So Yeon; Kang, Chang Kyung; Choe, Pyoeng Gyun; Park, Wan Beom; Kim, Nam Joong; Oh, Myoung-Don; Choi, Eun Hwa; Park, Seungman; Kim, Taek Soo; Lee, Jung-Hee; Sung, Heungsup; Park, Sung Sup; Seong, Moon-Woo Virulence, Vol.13 No.1, pp.1242-1251	DOI
2022-03	SnackNTM: An Open-Source Software for Sanger Sequencing-based Identification of Nontuberculous Mycobacterial Species Kim, Young-Gon; Jung, Kiwook; Kim, Seunghwan; Kim, Man Jin; Lee, Jee-Soo; Park, Sung-Sup; Seong, Moon-Woo Annals of Laboratory Medicine, Vol.42 No.2, pp.213-248	DOI
2022-04	The importance of extracutaneous organ involvement for the clinical severity and prognosis observed in incontinentia pigmenti caused by IKBKG mutations Kim, Hwa Young; Ko, Jung Min; Song, Hyun Beom; Kim, Kyu Han; Chae, Jong Hee; Kim, Man Jin; Seong, Moon-Woo European Journal of Human Genetics, Vol.30 No.SUPPL 1, pp.166-167
2022-05	The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism Lee, Youngeun; Park, Hyun Jin; Kang, Hyoung Jin; Ko, Jung Min; Kim, Boram; Chang, Yoon Hwan; Kim, Hyun Kyung; Lee, Jee-Soo; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo Annals of Laboratory Medicine, Vol.42 No.3, pp.384-388	DOI
2022-05	Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II Kim, Hwa Young; Kim, Man Jin; Seong, Moon-Woo; Ko, Jung Min Annals of Laboratory Medicine, Vol.42 No.3, pp.373-375	DOI
2022-07	Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene Choe, Yunsoo; Shin, Choong Ho; Lee, Young Ah; Kim, Man Jin; Lee, Yun Jeong Frontiers in Endocrinology, Vol.13, p. 911672	DOI
2022-08	Fatal systemic disorder caused by biallelic variants in FARSA Kim, Soo Yeon; Ko, Saebom; Kang, Hyunook; Kim, Man Jin; Moon, Jangsup; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Choi, Hee-Jung; Chae, Jong-Hee Orphanet Journal of Rare Diseases, Vol.17 No.1, p. 306	DOI
2022-08	Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing Seo, Soo Hyun; Lee, Seungjun; Park, Joseph Kyu-hyung; Yang, Eun Joo; Kim, Boram; Lee, Jee-Soo; Kim, Man Jin; Park, Sung Sup; Seong, Moon-Woo; Nam, Sun-Young; Heo, Chan-Yeong; Myung, Yujin Scientific Reports, Vol.12 No.1, p. 13591	DOI
2022-08	Fatal systemic disorder caused by biallelic variants in FARSA Kim, Soo Yeon; Ko, Saebom; Kang, Hyunook; Kim, Man Jin; Moon, Jangsup; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Choi, Hee-Jung; Chae, Jong-Hee Orphanet Journal of Rare Diseases, 17(1):306	view file link
2022-09	Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases Park, Soojin; Jang, Se Song; Lee, Seungbok; Kim, Minsoo; Sim, Hyungtai; Jeon, Hyeongseok; Hong, Sung Eun; Lee, Jean; Lee, Jeongeun; Jeon, Eun Young; Lee, Jeongha; Lee, Cho-Rong; Kim, Soo Yeon; Kim, Man Jin; Yoon, Jihoon G.; Lim, Byung Chan; Kim, Woo Joong; Kim, Ki Joong; Ko, Jung Min; Cho, Anna; Lee, Jin Sook; Choi, Murim; Chae, Jong-Hee Frontiers in Genetics, Vol.13, p. 990015	DOI
2022-09	Burning chest pain as a prodromal sign in autopsy- proven Parkinson's disease dementia Yoo, Dallah; Park, Sung-Hye; Kim, Man Jin; Ahn, Tae-Beom Neurology Asia, Vol.27 No.3, pp.795-798	DOI
2023-02	ITDetect: a method to detect internal tandem duplication of FMS-like tyrosine kinase (FLT3) from next-generation sequencing data with high sensitivity and clinical application Lee, Sungyoung; Sun, Choong-Hyun; Jang, Heejun; Kim, Daeyoon; Yoon, Sung-Soo; Koh, Youngil; Na, Seung Chan; Cho, Sung Im; Kim, Man Jin; Seong, Moon-Woo; Byun, Ja Min; Yun, Hongseok BMC Bioinformatics, 24(1):62	view file DOI
2023-04	The spectrum of imaging manifestations of Gorham–Stout disease: a novel dynamic contrast-enhanced MR lymphangiography Lee, Yuna; Lee, Seunghyun; Hur, Saebeom; Jeong, Yun Soo; Suh, Dong In; Moon, Jangsup; Kim, Man Jin; Choi, Young Hun; Cheon, Jung-Eun Orphanet Journal of Rare Diseases, 18(1):96	view file DOI