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Showing results 1 to 13 of 13

Issue Date	Title / Author(s) / Citation	File	Altmetrics
2006-02	Risk factor analysis for development of asymptomatic carotid stenosis in Koreans Lim, Yun Jeong; Kim, Young-Wook; Choe, Yeon Kyan; Ki, Chang-Seok; Park, Sue Kyung J Korean Med Sci. 2006 Feb;21(1):15-9.	view file link
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
2010-02	The Relationship between Lewis/Secretor Genotypes and Serum Carbohydrate Antigen 19-9 Levels in a Korean Population Park, Hyung-Doo; Park, Kyoung Un; Song, Junghan; Ki, Chang-Seok; Kim, Jin Q.; Han, Kyou Sup KOREAN JOURNAL OF LABORATORY MEDICINE; Vol.30 1; 51-57	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
2015-11	Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals Jang, Mi-Ae; Shin, Sue; Yoon, Jong Hyun; Ki, Chang-Seok BMC Medical Genetics, 16(1):109	view file DOI
2016-01	Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis Lim, Su Min; Choi, Won Jun; Oh, Ki-Wook; Xue, Yuanchao; Choi, Ji Young; Kim, Sung Hoon; Nahm, Minyeop; Kim, Young-Eun; Lee, Jinhyuk; Noh, Min-Young; Lee, Seungbok; Hwang, Sejin; Ki, Chang-Seok; Fu, Xiang-Dong; Kim, Seung Hyun Molecular Neurodegeneration, 11(1):8	view file
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
2017-12	The Rap activator Gef26 regulates synaptic growth and neuronal survival via inhibition of BMP signaling Heo, Keunjung; Nahm, Minyeop; Lee, Min-Jung; Kim, Young-Eun; Ki, Chang-Seok; Kim, Seung Hyun; Lee, Seungbok Molecular Brain. 2017 Dec 28;10(1):62	view file DOI

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