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Pediatric Gastroenterology, Hepatology & Nutrition|October 17, 2015
Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's DiseaseJung Ah Kim, Hyun Jin Kim, Jin Min Cho, et al.Journal of Clinical Neurology (Seoul, Korea)|April 14, 2016
Erratum to: Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion SyndromeEun Hee Kim, Mi Sun Yum, Beom Hee Lee, et al.The Korean Journal of Laboratory Medicine|May 5, 2009
[A case of a Korean adult affected by type B Niemann-Pick disease: secondary sea-blue histiocytosis and molecular characterization]Young-Uk Cho, Jeong Don Chae, Won Mi Lee, et al.Renal Failure|January 21, 2012
A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry diseaseJoon Seok Choi, Chang Seong Kim, Jeong Woo Park, et al.Journal of Neurosurgery|October 3, 2015
Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya diseaseEun-Hee Kim, Mi-Sun Yum, Young-Shin Ra, et al.Medicine|February 4, 2022
Clinical and genetic features of four patients with Pearson syndrome: An observational studyJi Soo Son, Go Hun Seo, Yoon-Myung Kim, et al.The Journal of Clinical Endocrinology and Metabolism|October 22, 2010
Clinical and functional characteristics of a novel heterozygous mutation of the IGF1R gene and IGF1R haploinsufficiency due to terminal 15q26.2->qter deletion in patients with intrauterine growth retardation and postnatal catch-up growth failureJin-Ho Choi, Minji Kang, Gu-Hwan Kim, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|April 15, 2018
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalisEungu Kang, Yoon-Myung Kim, Sun Hee Heo, et al.Journal of Korean Medical Science|January 4, 2017
Genotype and Phenotype Analysis in Pediatric Patients with CystinuriaJi Hyun Kim, Eujin Park, Hye Sun Hyun, et al.BMC Medical Genomics|October 28, 2021
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in KoreaYena Lee, Yunha Choi, Go Hun Seo, et al.Pageof 18