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Korean Journal of Pediatrics|April 30, 2014
Lowe syndrome: a single center's experience in KoreaHyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, et al.
Hormone Research in Paediatrics|September 24, 2014
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glandsHye Young Jin, Sun-Hee Heo, Yoo-Mi Kim, et al.
Metabolic Brain Disease|May 27, 2019
Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variantsJa Hyang Cho, Jin-Ho Choi, Sun Hee Heo, et al.
Metabolic Brain Disease|June 13, 2014
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patientsJa Hye Kim, Beom Hee Lee, Yoo-Mi Kim, et al.
Medcomm|November 19, 2025
Ataluren-Induced Functional Restoration of Neurofibromin in Fibroblasts From Neurofibromatosis Type 1 Patients With Nonsense MutationsSoyoung Kim, Hyosang Do, Sun Hee Heo, et al.
Journal of Genetic Counseling|May 21, 2024
Survey of patient satisfaction with genetic counseling services in KoreaIn Hee Choi, Yun Kyung Kim, Seo Yeon Yang, et al.
Molecular Therapy. Nucleic Acids|March 13, 2023
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editingGayoung Jang, Ha Rim Shin, Hyo-Sang Do, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|April 26, 2008
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicismHyun Jin Choi, Beom Hee Lee, Hee Yeon Cho, et al.
Biochemical and Biophysical Research Communications|January 29, 2014
Modeling of Menkes disease via human induced pluripotent stem cellsJi-Hoon Suh, Dongkyu Kim, Hyemin Kim, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|June 17, 2017
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencingAram Yang, Sung Yoon Cho, Ja-Hyun Jang, et al.
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