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Hormone Research|July 5, 2005
Endocrine manifestations of chromosome 22q11.2 microdeletion syndromeJin-Ho Choi, Young-Lim Shin, Gu-Hwan Kim, et al.Journal of Pediatric Gastroenterology and Nutrition|March 11, 2009
Clinical characteristics and VPS33B mutations in patients with ARC syndromeJoo Young Jang, Kyung Mo Kim, Gu-Hwan Kim, et al.Journal of Human Genetics|October 28, 2011
Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutationsChang-Woo Jung, Beom Hee Lee, Joo Hyun Kim, et al.Korean Journal of Pediatrics|March 1, 2012
Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroupsJu-Young Lee, Beom Hee Lee, Gu-Hwan Kim, et al.Annals of Pediatric Endocrinology & Metabolism|February 2, 2023
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromesNae-Yun Lee, Ja Hye Kim, Ji-Hee Yoon, et al.Journal of Human Genetics|June 24, 2016
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomesJa Hye Kim, Beom Hee Lee, Ja Hyang Cho, et al.Journal of Human Genetics|May 19, 2018
Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in KoreaDahye Kim, Jung Min Ko, Yoon-Myung Kim, et al.Chemosphere|January 16, 2007
Ambient air monitoring of PCDD/Fs and co-PCBs in Gyeonggi-do, KoreaDong Gi Kim, Yoon Ki Min, Ju Yong Jeong, et al.Journal of Clinical Neurology (Seoul, Korea)|January 25, 2013
Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 MutationsEun Hye Lee, Mi-Sun Yum, Seong Jong Park, et al.Journal of Movement Disorders|May 29, 2014
Novel compound heterozygous mutations in the pantothenate kinase 2 gene in a korean patient with atypical pantothenate kinase associated neurodegenerationSung-Hyouk Kim, Young-Hee Sung, Kee-Hyung Park, et al.Pageof 18