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Korean Journal of Pediatrics|April 5, 2012
A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patientsOk Jeong Lee, Su-Jin Kim, Young Bae Sohn, et al.
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.
Human Genetics|January 12, 2011
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasiaSu Jin Kim, Tadeusz Bieganski, Young Bae Sohn, 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.
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.
Blood|June 11, 2021
Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndromeSangmoon Lee, Chang Hoon Shin, Jawon Lee, et al.
Human Mutation|April 14, 2025
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support ProgramRin Khang, Hane Lee, Jihye Kim, et al.
Medicine|July 21, 2017
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotypeJin-Ho Choi, Beom Hee Lee, Sun Hee Heo, 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.
Orphanet Journal of Rare Diseases|October 8, 2022
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructureSoo Yeon Kim, Seungbok Lee, Hyewon Woo, et al.
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