Showing 1 - 8 results of 8 for search 'Joonhong Park', query time: 0.04s Refine Results
  1. 1
    Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay

    Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay by Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park, Joonhong Park

    Published 2020
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  2. 2
    Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction

    Case Report: Novel Likely Pathogenic ACTN2 Variant Causing Heterogeneous Phenotype in a Korean Family With Left Ventricular Non-compaction by Joonhong Park, Joonhong Park, Yong Gon Cho, Yong Gon Cho, Ha Wook Park, Jung Sun Cho

    Published 2021
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  3. 3
    Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

    Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability by Ji Yoon Han, Ja Hyun Jang, Joonhong Park, In Goo Lee

    Published 2018
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  4. 4
    Identification of Missense <i>ADGRV1</i> Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4

    Identification of Missense <i>ADGRV1</i> Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4 by Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park

    Published 2020
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  5. 5
    Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report

    Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report by Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park

    Published 2021
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  6. 6
    Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

    Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency by Minsun Kim, Seung Yeob Lee, Seung Yeob Lee, Namsu Kim, Namsu Kim, Jaehyeon Lee, Jaehyeon Lee, Dal Sik Kim, Dal Sik Kim, Joonhong Park, Joonhong Park, Yong Gon Cho, Yong Gon Cho

    Published 2022
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  7. 7
    Complement 4 levels of a 4-year-old girl with angioedema

    Complement 4 levels of a 4-year-old girl with angioedema by Soyoung Shin, Yoon Tae Lee, Kyung Yil Lee, Joonhong Park, Jae Ho Lee, Eun Ae Yang

    Published 2020
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  8. 8
    Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

    Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea by Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim, Yonggoo Kim

    Published 2017
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