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A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects

Cho, Eun Hye; Huh, Hee Jae; Jeong, Inyoung; Lee, Nam Yong; Koh, Won-Jung; Park, Hae-Chul; Ki, Chang-Seok

ArticleIssue Date2020CitationCLINICAL GENETICS, v.98, no.1, pp 64 - 68PublisherWILEY
SCIESCOPUS
Apolipoprotein E4 Affects Topographical Changes in Hippocampal and Cortical Atrophy in Alzheimer's Disease Dementia: A Five-Year Longitudinal Study

Kim, Yeo Jin; Cho, Hanna; Kim, Yun Joong; Ki, Chang-Seok; Chung, Sun Ju; Ye, Byoung Seok; Kim, Hee Jin; Kim, Jung-Hyun; Kim, Sung Tae; Lee, Kyung Han, et al.

ArticleIssue Date2015CitationJOURNAL OF ALZHEIMERS DISEASE, v.44, no.4, pp 1075 - 1085PublisherIOS PRESS
SCISCIESCOPUS
Charcot-Marie-Tooth Disease Masquerading as Acute Demyelinating Encephalomyelitis-Like Illness

Kim, Gun-Ha; Kim, Kyoung Min; Suh, Sang-il; Ki, Chang-Seok; Eun, Baik-Lin

ArticleIssue Date2014CitationPEDIATRICS, v.134, no.1, pp E270 - E273PublisherAMER ACAD PEDIATRICS
SCIESCOPUS
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Park, Jong Eun; Kim, Eunmi; Lee, Dong-Won; Park, Taek Kyu; Kim, Min Sun; Jang, Shin Yi; Ahn, Jaemyung; Park, Kwang Bo; Kim, Keon-Ha; Park, Hae-Chul, et al.

ArticleIssue Date2021CitationSCIENTIFIC REPORTS, v.11, no.1PublisherNATURE PORTFOLIO
SCIESCOPUSKCI
Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: First report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea

Kim, Sei Joo; Yoon, Joon Shik; Baek, Hye Jin; Suh, Sang I. I.; Bae, Sook Young; Cho, Hyun-Jung; Ki, Chang-Seok

ArticleIssue Date2008CitationJOURNAL OF KOREAN MEDICAL SCIENCE, v.23, no.2, pp 328 - 331PublisherKOREAN ACAD MEDICAL SCIENCES
SCISCIESCOPUS
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma

Kim, Hee-Jung; Suh, Wool; Park, Sung Chul; Kim, Chan Yun; Park, Ki Ho; Kook, Michael S.; Kim, Yong Yeon; Kim, Chang-Sik; Park, Chan Kee; Ki, Chang-Seok, et al.

ArticleIssue Date2011CitationMOLECULAR VISION, v.17, no.228, pp 2093 - 2101PublisherMOLECULAR VISION
SCISCIESCOPUSKCI
Report on the Project for Establishment of the Standardized Korean Laboratory Terminology Database, 2015

Jung, Bo Kyeung; Kim, Jeeyong; Cho, Chi Hyun; Kim, Ju Yeon; Nam, Myung-Hyun; Shin, Bong Kyung; Rho, Eun Youn; Kim, Sollip; Sung, Heungsup; Kim, Shinyoung, et al.

ArticleIssue Date2017CitationJOURNAL OF KOREAN MEDICAL SCIENCE, v.32, no.4, pp 695 - 699PublisherKOREAN ACAD MEDICAL SCIENCES
SCIESCOPUSKCI
Standardization of terminology in laboratory medicine II

Lee, Kap No; Yoon, Jong-Hyun; Min, Won Ki; Lim, Hwan Sub; Song, Junghan; Chae, Seok Lae; Jang, Seongsoo; Ki, Chang-Seok; Bae, Sook Young; Kim, Jang Su, et al.

ArticleIssue Date2008CitationJOURNAL OF KOREAN MEDICAL SCIENCE, v.23, no.4, pp 711 - 713PublisherKOREAN ACAD MEDICAL SCIENCES
SCIESCOPUS
Whole blood Epstein-Barr virus DNA load as a diagnostic and prognostic surrogate: extranodal natural killer/T-cell lymphoma

Kim, Hyo Song; Kim, Kyung Hee; Kim, Kyoung Ha; Chang, Myung Hee; Ji, Sang Hoon; Lim, Do Hyoung; Kim, Kihyun; Kim, Seok Jin; Ko, Younghyeh; Ki, Chang-Seok, et al.

ArticleIssue Date2009CitationLEUKEMIA & LYMPHOMA, v.50, no.5, pp 757 - 763PublisherTAYLOR & FRANCIS LTD
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