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Frontiers in Genetics|March 13, 2026
Novel <i>APC</i> promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case reportJong Sun Park, Sun Gyo Lim, Jongmun Choi, et al.
American Journal of Medical Genetics. Part A|May 14, 2011
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)Jeong-Yi Kwon, Kiljun Ko, Young Bae Sohn, et al.
Korean Journal of Pediatrics|January 10, 2013
Diagnosis and constitutional and laboratory features of Korean girls referred for precocious pubertyDoosoo Kim, Sung-Yoon Cho, Se-Hyun Maeng, et al.
International Journal of Oncology|January 8, 2013
NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumorsHo-Jin Park, Su-Jin Lee, Young Bae Sohn, et al.
Oncology Reports|August 12, 2014
TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regionsGun-Hoo Park, Su-Jin Lee, Hyunee Yim, et al.
European Journal of Medical Genetics|May 29, 2019
Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosisYoung Bae Sohn, Jung Min Ko, Ju Young Jang, et al.
American Journal of Medical Genetics. Part A|May 15, 2012
Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short statureSung Yoon Cho, Chang-Seok Ki, Ja-Hyun Jang, et al.
Orphanet Journal of Rare Diseases|March 19, 2013
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome)Young Bae Sohn, Sung Yoon Cho, Sung Won Park, et al.
Korean Journal of Pediatrics|December 11, 2012
Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVANa Hee Lee, Sung Yoon Cho, Se Hyun Maeng, et al.
Frontiers in Genetics|June 14, 2021
Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center ExperienceSu Jin Kim, Sae-Mi Lee, Jong-Moon Choi, et al.
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