Search Results - Chang-Seok Ki

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  1. 1
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    mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea by Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki

    Published 2019
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  2. 2
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    Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype by Eonah Kim, Chang-Seok Ki, Sohye Park, Kyung Yeon Lee

    Published 2020
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  3. 3
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    Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family by Myo-Jing Kim, Young-Eun Kim, Chang-Seok Ki, Jae-Ho Yoo

    Published 2014
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  4. 4
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    Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis by Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki

    Published 2022
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  5. 5
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    A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features by Na won Lee, Ji Eun Jeong, Young Hwan Kim, Chang Seok Ki, Jin Kyung Kim

    Published 2023
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  6. 6
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    Identification of a novel mutation in the gene in a patient with CHARGE syndrome by Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim

    Published 2014
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  7. 7
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    HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

    Published 2017
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  8. 8
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    A novel gene mutation in a Korean patient with Kabuki syndrome by Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin

    Published 2013
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  9. 9
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    First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review by Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin

    Published 2022
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  10. 10
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    Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia by Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee

    Published 2014
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