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Nephrology (Genitourinary)
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Korean J Pediatr. 2019;62(5):193-197.   Published online November 26, 2018
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Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome
Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Korean J Pediatr. 2014;57(1):46-49.   Published online January 31, 2014
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A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome
Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Korean J Pediatr. 2013;56(8):355-358.   Published online August 27, 2013
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A case of glycogen storage disease type Ib
Moon-Sun Kim, Jae-Bok Park, Chang-Seok Ki, Jin-Kyung Kim
Korean J Pediatr. 2009;52(12):1383-1387.   Published online December 15, 2009
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A case of two sisters births from mother with phenylketonuria lacking mental retardation
Chang-Seok Ki, Jin Kyung Kim
Accepted January 1, 1970  
Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
Sook Hyun Nam, Young Bae Son, Bo Lyun Lee, Jeehun Lee, Chang-seok Ki, Munhyang Lee
Korean J Pediatr. 2007;50(9):868-874.   Published online September 15, 2007
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Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone
Jin Young Shin, Chang-Seok Ki, Jin Kyung Kim
Korean J Pediatr. 2007;50(6):576-579.   Published online June 15, 2007
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