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European Journal of Pediatrics|November 9, 2010
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasiaHye Young Jin, Jin-Ho Choi, Beom Hee Lee, et al.
Molecular Genetics & Genomic Medicine|June 14, 2025
A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous AdministrationEungu Kang, Dohyung Kim, Soojin Hwang, et al.
The Journal of Pediatrics|July 26, 2011
Spectrum of mutations in Noonan syndrome and their correlation with phenotypesBeom Hee Lee, Jae-Min Kim, Hye Young Jin, et al.
Korean Journal of Pediatrics|September 11, 2013
Chronic intermittent form of isovaleric aciduria in a 2-year-old boyJin Min Cho, Beom Hee Lee, Gu-Hwan Kim, et al.
Orphanet Journal of Rare Diseases|February 13, 2020
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type IaYoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, et al.
Journal of Human Genetics|August 28, 2015
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetranceBeom Hee Lee, Christos Kasparis, Brenden Chen, et al.
Journal of Neuro-Oncology|May 23, 2026
Therapeutic effects of selumetinib on diffuse neurofibroma and optic pathway glioma in neurofibromatosis type 1Soojin Hwang, Pyeong Hwa Kim, Hyery Kim, et al.
Journal of Genetic Counseling|August 23, 2024
Cross-cultural validation of the genetic counseling outcome scale in KoreaSojin Yang, Yoon Jung Chang, Kyung Ok Kim, et al.
Journal of Child Neurology|March 24, 2025
Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic AnalysisJihye You, Mi Jin Kim, Seulgi Cha, et al.
Frontiers in Immunology|December 24, 2021
Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell TransplantationHyery Kim, Beom Hee Lee, Hyo-Sang Do, et al.
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