- 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
- Clin Exp Pediatr. 2019;62(5):193-197.
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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 et al.
- Clin Exp Pediatr. 2013;56(8):355-358.
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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 et al.
- Clin Exp Pediatr. 2014;57(1):46-49.
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- A case of glycogen storage disease type Ib
- Moon-Sun Kim, Jae-Bok Park, Chang-Seok Ki et al.
- Clin Exp Pediatr. 2009;52(12):1383-1387.
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- A case of two sisters births from mother with phenylketonuria lacking mental retardation
- Chang-Seok Ki, Jin Kyung Kim
- Clin Exp Pediatr. 2008;51(5):546-550.
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- Clinical characteristics of congenital myotonic dystrophy diagnosed by molecular genetic method
- Sook Hyun Nam, Young Bae Son, Bo Lyun Lee et al.
- Clin Exp Pediatr. 2007;50(9):868-874.
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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
- Clin Exp Pediatr. 2007;50(6):576-579.
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