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Showing results 1 to 9 of 9

Issue Date	Title / Author(s) / Citation	File	Altmetrics
2007-11	Identification of a novel DHCR7 mutation in a Korean patient with Smith-Lemli-Opitz syndrome Chae, Jong Hee; Kim, Ki Joong; Hwang, Yong Seung; Ki, Chang-Seok; Kim, Jong-Won J Child Neurol. 2007 Nov;22(11):1297-300.	link
2009-01	Clinical and genetic analysis of Korean patients with facioscapulohumeral muscular dystrophy Ki, Chang-Seok; Lee, Seung-Tae; Kim, Kyung-Sook; Kim, Jong-Won; Hong, Yoon-Ho; Sung, Jung-Joon; Park, Kyung Seok; Lee, Kwang-Woo J Korean Med Sci. 2008; 23(6): 959-63	view file DOI
2010	Association of ATP7B Mutation Detection Rate with Biochemical Characteristics in Korean Patients with Wilson Disease Park, Hyung-Doo; Park, Hyun-Kyung; Lee, Soo-Youn; Chung, Hae-Sun; Ki, Chang-Seok; Kim, Jong-Won ANNALS OF CLINICAL AND LABORATORY SCIENCE; Vol.40 1; 15-19	view file
2010-01	A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis Ko, Jae Sung; Choi, Byung Sam; Seo, Jeong Kee; Shin, Jee Yeon; Kang, Gyeong Hoon; Ki, Chang-Seok; Kim, Jong-Won; Lee, Ran; Chae, Jong Hee JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 1; 159-162	view file DOI
2010-01	Novel CFTR Mutations in a Korean Infant with Cystic Fibrosis and Pancreatic Insufficiency Choe, Young June; Ko, Jae Sung; Seo, Jeong Kee; Han, Jae Jun; Koh, Young Yull; Ki, Chang-Seok; Kim, Jung Ho; Kim, Jong-Won; Lee, Ran; Shim, Jung Ok JOURNAL OF KOREAN MEDICAL SCIENCE; Vol.25 1; 163-165	view file DOI
2010-08	Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea Lim, Bung Chan; Ki, Chang-Seok; Kim, Jong-Won; Cho, Anna; Hwang, Hee; Hwang, Yong Seung; Lim, Yun-Jung; Lee, Jun Su; Chae, Jong Hee; Kim, In One; Park, Woong Yang; Kim, Ki Joong; Kim, Min Jung NEUROMUSCULAR DISORDERS; Vol.20 8; 524-530	DOI
2014-08	Novel GALTvariations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity Choi, Rihwa; Jo, Kyoung Il; Ko, Dae-Hyun; Lee, Dong Hwan; Song, Junghan; Jin, Dong-Kyu; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Lee, Yong-Wha; Park, Hyung-Doo BMC Medical Genetics, 15(1):94	view file DOI
2016-04	PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations Choi, Rihwa; Park, Hyung-Doo; Kang, Ben; Choi, So Yoon; Ki, Chang-Seok; Lee, Soo-Youn; Kim, Jong-Won; Song, Junghan; Choe, Yon Ho BMC Medical Genetics, 17(1):33	view file DOI
2018-10	DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data Kang, Yeeok; Nam, Seong-Hyeuk; Park, Kyung Sun; Kim, Yoonjung; Kim, Jong-Won; Lee, Eunjung; Ko, Jung Min; Lee, Kyung-A; Park, Inho BMC Bioinformatics, 19(1):381	view file DOI

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