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Journal of Human Genetics|April 18, 2014
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndromeChong Kun Cheon, Young Bae Sohn, Jung Min Ko, et al.
BMC Pediatrics|February 1, 2025
Comparison of growth hormone therapy response according to the presence of growth hormone deficiency in children born small for gestational age with short stature in Korea: a retrospective cohort studyHa Young Jo, Hyun Ji Jang, Chong Kun Cheon, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|March 19, 2025
Prader-Willi syndrome gene expression profiling of obese and non-obese patients reveals transcriptional changes in CLEC4D and ANXA3Ju Young Yoon, Choong Ho Shin, Murim Choi, et al.
Endocrinology and Metabolism (Seoul, Korea)|May 26, 2026
Clinical Characteristics and Outcomes of Korean Patients with Lipoid Congenital Adrenal Hyperplasia: An Analysis of Data from the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) Cohort StudyYoonha Lee, Minsun Kim, Yun Jeong Lee, et al.
Frontiers in Endocrinology|July 25, 2024
Healthcare professionals' perspectives towards the digitalisation of paediatric growth hormone therapies: expert panels in Italy and KoreaOctavio Rivera Romero, Hyun Wook Chae, Maria Felicia Faienza, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|October 5, 2024
RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish modelJi-Won Park, Tae-Ik Choi, Tae-Yoon Kim, et al.
Patient Preference and Adherence|January 8, 2020
Ease of Use, Preference, and Safety of the Recombinant Human Growth Hormone Disposable Pen Compared with the Reusable Device: A Multicenter, Single-Arm, Open-Label, Switch-Over, Prospective, Phase IV TrialJi-Eun Lee, Se Young Kim, Jae-Ho Yoo, et al.
Clinical Genetics|February 24, 2026
Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean PopulationJuhyeon Hong, Seungbok Lee, Soo Yeon Kim, et al.
Molecular Genetics and Metabolism Reports|February 3, 2025
Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)Juyoung Sung, Insung Kim, Minji Im, et al.
Molecular Medicine (Cambridge, Mass.)|March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delayGo Hun Seo, Hane Lee, Jungsul Lee, et al.
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