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Annals of Pediatric Endocrinology & Metabolism|July 21, 2015
Turner syndrome presented with tall stature due to overdosage of the SHOX geneGo Hun Seo, Eungu Kang, Ja Hyang Cho, et al.
Annals of Pediatric Endocrinology & Metabolism|April 18, 2015
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experienceSun-Jeong Shin, Yeonah Sul, Ja Hye Kim, 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.
International Journal of Molecular Medicine|November 6, 2007
Six cases of citrin deficiency in KoreaJung Min Ko, Gu-Hwan Kim, Ju-Hyun Kim, et al.
European Journal of Pediatrics|October 8, 2011
A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndromeKeun Wook Bae, Bo Eun Kim, Jin-Ho Choi, et al.
Brain & Development|February 26, 2013
Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalisBeom Hee Lee, Yoo-Mi Kim, Joo Hyun Kim, et al.
Endocrine Connections|March 14, 2023
Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadismJa Hye Kim, Yunha Choi, Soojin Hwang, et al.
Korean Journal of Pediatrics|April 6, 2013
X-linked recessive myotubular myopathy with MTM1 mutationsYoung-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, et al.
Gut and Liver|March 1, 2012
A Novel Frameshift Mutation of the ALDOB Gene in a Korean Girl Presenting with Recurrent Hepatitis Diagnosed as Hereditary Fructose IntoleranceHae-Won Choi, Yeoun Joo Lee, Seak Hee Oh, et al.
Korean Journal of Pediatrics|February 20, 2016
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delayGo Hun Seo, Ja Hye Kim, Ja Hyang Cho, et al.
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