Showing 1 - 20 results of 23 for search 'Jong-Hee Chae', query time: 0.06s Refine Results
  1. 1
    A compound heterozygous mutation in the gene: the first pediatric case causes fish odor syndrome in Korea

    A compound heterozygous mutation in the gene: the first pediatric case causes fish odor syndrome in Korea by Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae

    Published 2017
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  2. 2
    The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder

    The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder by Seungbok Lee, Seungbok Lee, Se Song Jang, Soojin Park, Jihoon G. Yoon, Soo Yeon Kim, Soo Yeon Kim, Byung Chan Lim, Jong Hee Chae, Jong Hee Chae

    Published 2022
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  3. 3
    Neonatal-Onset Encephalopathy: A Rare Korean Case with Hypophosphatasia

    Neonatal-Onset Encephalopathy: A Rare Korean Case with Hypophosphatasia by Min Jun Chun, Yeon Sook Moon, Woo Ri Jang, Jong Hee Chae, Young Se Kwon

    Published 2022
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  4. 4
    A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation

    A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation by Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang

    Published 2010
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  5. 5
    Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients

    Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients by Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

    Published 2022
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  6. 6
    Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea

    Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea by Seungbok Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Anna Cho

    Published 2022
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  7. 7
    Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations

    Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations by Bomi Lim, Anna Cho, Jaehyun Kim, Sang Mee Hwang, Soo Yeon Kim, Jong-Hee Chae, Hyoung Soo Choi

    Published 2024
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  8. 8
    Short Course and Early Switch of Vigabatrin for Infantile spasms

    Short Course and Early Switch of Vigabatrin for Infantile spasms by Hye Won Ryu, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim

    Published 2020
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  9. 9
    Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea

    Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea by Jaeso Cho, Young Shin Joo, Jihoon G. Yoon, Seung Bok Lee, Soo Yeon Kim, Jong Hee Chae, Yong Jin Kwon

    Published 2024
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  10. 10
    A case of Becker muscular dystrophy with early manifestation of cardiomyopathy

    A case of Becker muscular dystrophy with early manifestation of cardiomyopathy by Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae

    Published 2012
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  11. 11
    Deep Phenotyping in 1p36 Deletion Syndrome

    Deep Phenotyping in 1p36 Deletion Syndrome by Youngkyu Shim, Young Jun Go, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jieun Choi, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

    Published 2020
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  12. 12
    Expanding association between BICD2 variants and brain malformations and associated lissencephaly

    Expanding association between BICD2 variants and brain malformations and associated lissencephaly by Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae

    Published 2024
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  13. 13
    Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

    Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations by Ji Yeon Han, Seungbok Lee, Hyewon Woo, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae

    Published 2021
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  14. 14
    Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement

    Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement by Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim

    Published 2023
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  15. 15
    Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

    Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus by Jieun Choi, Sun Ah Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Sohee Oh, Jeon-Soo Shin

    Published 2019
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  16. 16
    Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study

    Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study by Hey-Joon Son, Minhye Kim, Hye Jin Kim, Jae So Cho, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae, Woo Joong Kim

    Published 2024
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  17. 17
    Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series

    Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series by Hye Jin Kim, Young Joon Ko, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim

    Published 2022
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  18. 18
    Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population

    Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population by Woo Joong Kim, Young Kyu Shim, Young Jun Ko, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae

    Published 2021
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  19. 19
    The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center

    The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center by Young Jun Ko, Young Kyu Shim, Woo Joong Kim, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim, Byung Chan Lim

    Published 2020
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  20. 20
    A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

    A case of isodicentric chromosome 15 presented with epilepsy and developmental delay by Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim

    Published 2012
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