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Gene|July 10, 2012
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's diseaseHye Won Park, Yonghee Lee, Gu-Hwan 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.
Journal of Korean Medical Science|January 11, 2011
A case of campomelic dysplasia without sex reversalHyoung-Young Kim, Chong Hyun Yoon, Gu-Hwan Kim, et al.
Obstetrics & Gynecology Science|March 29, 2014
Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature reviewInji Cho, Jae-Yoon Shim, Gu-Hwan Kim, et al.
Annals of Pediatric Endocrinology & Metabolism|April 23, 2016
Endocrine dysfunctions in children with Williams-Beuren syndromeYoon-Myung Kim, Ja Hyang Cho, Eungu Kang, et al.
Medicine|May 17, 2018
The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrumsGo Hun Seo, Yoon-Myung Kim, Eungu Kang, et al.
Yonsei Medical Journal|March 24, 2017
Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in KoreaJin Ho Choi, Chang Woo Jung, Eungu Kang, et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association|September 15, 2018
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic HypogonadismJa Hye Kim, Go Hun Seo, Gu-Hwan Kim, et al.
Metallomics : Integrated Biometal Science|March 23, 2013
The early molecular processes underlying the neurological manifestations of an animal model of Wilson's diseaseBeom Hee Lee, Joo Hyun Kim, Jae-Min Kim, et al.
Ophthalmology|February 25, 2012
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridiaHyun Taek Lim, Eul-Ju Seo, Gu-Hwan Kim, et al.
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