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Genetics and Metabolism
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Korean J Pediatr. 2018;61(12):403-406.   Published online September 16, 2018
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Commentary on “Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea”
Sung-Min Park, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Korean J Pediatr. 2018;61(1):35-36.   Published online January 22, 2018
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The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Korean J Pediatr. 2017;60(12):408-412.   Published online December 22, 2017
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Neonatal indirect hyperbilirubinemia and glucose-6-phosphate dehydrogenase deficiency
Hasan M. Isa, Masooma S. Mohamed, Afaf M. Mohamed, Adel Abdulla, Fuad Abdulla
Korean J Pediatr. 2017;60(4):106-111.   Published online April 25, 2017
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A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Korean J Pediatr. 2017;60(3):94-97.   Published online March 27, 2017
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Edentulous child with Allgrove syndrome: a rare case report
Mohammad Vahedi, Shima Fathi, Hanif Allahbakhshi
Korean J Pediatr. 2016;59(11):456-459.   Published online November 18, 2016
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A nonsense PAX6 mutation in a family with congenital aniridia
Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong
Korean J Pediatr. 2016;59(Suppl 1):S1-S4.   Published online November 30, 2016
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Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation
Jin Hwan Lee, Hyo Jeong Kim, Jung Min Yoon, Eun Jung Cheon, Jae Woo Lim, Kyong Og Ko, Gyung Min Lee
Korean J Pediatr. 2016;59(Suppl 1):S19-S24.   Published online November 30, 2016
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Long-term clinical course of a patient with mucopolysaccharidosis type IIIB
Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S37-S40.   Published online November 30, 2016
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Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk
Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee
Korean J Pediatr. 2016;59(Suppl 1):S41-S44.   Published online November 30, 2016
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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Korean J Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016
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A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Korean J Pediatr. 2016;59(6):276-279.   Published online June 30, 2016
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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, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Korean J Pediatr. 2016;59(1):16-23.   Published online January 22, 2016
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