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Annals of Pediatric Endocrinology & Metabolism|October 20, 2021
Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndromeMin-Sun Kim, Jiyeon Kim, Joongbum Cho, et al.
Annals of Pediatric Endocrinology & Metabolism|July 11, 2017
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysisEun-Kyung Cho, Jinsup Kim, Aram Yang, et al.
Molecular Genetics and Metabolism|September 16, 2014
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndromeYoung Bae Sohn, Sung Yoon Cho, Jieun Lee, et al.
Medicine|May 6, 2016
Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case ReportJe Hoon Jeong, A Leum Lee, Sung Yoon Cho, et al.
Medicine|September 12, 2018
Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature reviewP Pavone, Sung Yoon Cho, A D Praticò, et al.
Annals of Pediatric Endocrinology & Metabolism|April 5, 2019
A case of de novo 18p deletion syndrome with panhypopituitarismAram Yang, Jinsup Kim, Sung Yoon Cho, et al.
Annals of Clinical and Laboratory Science|August 26, 2018
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature ReviewHye-In Jeong, Aram Yang, Jinsup Kim, et al.
BMC Medical Genetics|August 14, 2016
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis IMin Jung Kwak, Rimm Huh, Jinsup Kim, et al.
BMC Medical Genetics|October 28, 2017
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case reportAram Yang, Jinsup Kim, Chang-Seok Ki, et al.
Annals of Pediatric Endocrinology & Metabolism|September 8, 2025
Age-related insulin resistance changes in children and adolescents and its impact on the accuracy of diagnosis of metabolic syndromeInsung Kim, Kyu-Na Lee, Juyoung Sung, et al.
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