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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.
Stem Cell Reports|July 9, 2021
Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCsJong Bin Choi, Joonsun Lee, Minyong Kang, 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.
Orphanet Journal of Rare Diseases|January 30, 2022
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progressionEungu Kang, Yoon-Myung Kim, Yunha Choi, 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.
Stem Cell Research & Therapy|July 17, 2020
Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitroYounghee Ju, Jun Sung Park, Daejeong Kim, et al.
BMB Reports|May 8, 2023
Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndromeYeonmi Lee, Jongsuk Han, Sae-Byeok Hwang, et al.
Genes|May 5, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean CohortYoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, 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.
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