- Neurofibromatosis type I: points to be considered by general pediatricians
- Eungu Kang, Hee Mang Yoon, Beom Hee Lee
- Clin Exp Pediatr. 2021;64(4):149-156.
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- Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
- Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim et al.
- Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28.
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- Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
- Go Hun Seo, Ja Hye Kim, Ja Hyang Cho et al.
- Clin Exp Pediatr. 2016;59(1):16-23.
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- Chronic intermittent form of isovaleric aciduria in a 2-year-old boy
- Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2013;56(8):351-354.
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- Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation
- Eun Sam Rho, Earl Kim, Hong Koh et al.
- Clin Exp Pediatr. 2013;56(5):227-230.
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- Lowe syndrome: a single center's experience in Korea
- Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim et al.
- Clin Exp Pediatr. 2014;57(3):140-148.
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- Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups
- Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim et al.
- Clin Exp Pediatr. 2012;55(2):48-53.
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