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Orphanet Journal of Rare Diseases|February 13, 2020
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type IaYoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, et al.Journal of Korean Medical Science|October 12, 2020
First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel <i>HSD17B4</i> Mutations and Progressive Neuropathy in KoreaEun Young Bae, Yoonyoung Yi, Han Hyuk Lim, et al.Annals of Pediatric Endocrinology & Metabolism|June 7, 2014
Turner syndrome with primary hyperparathyroidismJungmee Park, Yoo-Mi Kim, Jin-Ho Choi, et al.Annals of Laboratory Medicine|September 5, 2014
A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndromeJi-Hun Lim, Eul-Ju Seo, Yoo-Mi Kim, et al.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|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.Hormone Research in Paediatrics|April 22, 2015
Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutationsJa Hye Kim, Yoo-Mi Kim, Mi-Sun Yum, et al.Journal of Human Genetics|March 20, 2015
Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiencyJa Hye Kim, Yoo-Mi Kim, Beom Hee Lee, et al.Annals of Clinical and Laboratory Science|July 29, 2016
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase DeficiencyYoo-Mi Kim, Chong-Kun Cheon, Kyung-Hee Park, et al.Pageof 6