Clinical and Experimental Pediatrics

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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.
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.
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.
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.
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.
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.
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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