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Human Mutation|November 18, 2014
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfectaSung Yoon Cho, P V Asharani, Ok-Hwa Kim, et al.
American Journal of Medical Genetics. Part A|August 1, 2012
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) IISung Hwa Hong, Hosuk Chu, Ki Ryung Kim, et al.
American Journal of Human Genetics|May 31, 2016
BGN Mutations in X-Linked Spondyloepimetaphyseal DysplasiaSung Yoon Cho, Jun-Seok Bae, Nayoung K D 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.
Annals of Pediatric Endocrinology & Metabolism|January 8, 2025
Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study)Yun Jeong Lee, Chong Kun Cheon, Junghwan Suh, et al.
Cellular Signalling|July 28, 2014
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosisTadashi Kaname, Chang-Seok Ki, Norio Niikawa, et al.
American Journal of Human Genetics|February 19, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME DysplasiaHae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, et al.
Diabetes & Metabolism Journal|March 5, 2026
Familial Occurrence of Type 1 Diabetes Mellitus in Korean Children and Adolescents: A Multicenter StudyHae Sang Lee, Hwa Young Kim, Mi Yang, et al.
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