Showing 1 - 20 results of 32 for search 'Go-Hun Seo', query time: 0.05s Refine Results
  1. 1
    P313: A case report of an Egyptian family with hypercholesterolemia diagnosed with a unique LINE-1 insertion in the LDLR gene

    P313: A case report of an Egyptian family with hypercholesterolemia diagnosed with a unique LINE-1 insertion in the LDLR gene by Yongjun Song, Reham Elwafa, Omneya Omar, Hane Lee, Go Hun Seo

    Published 2023-01-01
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  2. 2
    Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving <i>OTUD6B</i> Coinciding with <i>ZMIZ1</i> Variant in Syndromic Intellectual Disability

    Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving <i>OTUD6B</i> Coinciding with <i>ZMIZ1</i> Variant in Syndromic Intellectual Disability by Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon

    Published 2021-10-01
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  3. 3
    P661: A database of high allele frequency variants from exome sequencing data of 20,455 patients enriched with Asian population

    P661: A database of high allele frequency variants from exome sequencing data of 20,455 patients enriched with Asian population by Kisang Kwon, Seong-in Hyun, Heonjong Han, Go Hun Seo, Hane Lee

    Published 2023-01-01
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  4. 4
    Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: a case report

    Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: a case report by Yun Jung Ko, Seonkyeong Rhie, Jihyun Baek, Go Hun Seo, So-Young Lee

    Published 2023-12-01
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  5. 5
    Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review

    Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review by Mi Ra Kim, Eun-Gyong Yoo, Seonkyeong Rhie, Go Hun Seo, Mo Kyung Jung

    Published 2022-06-01
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  6. 6
    A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy

    A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy by Seung Ho Kim, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Jeesuk Yu

    Published 2023-01-01
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  7. 7
    Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

    Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy by Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz

    Published 2023-09-01
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  8. 8
    Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report

    Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report by Dai Jung, Go Hun Seo, Yoon-Myung Kim, Jin-Ho Choi, Han-Wook Yoo

    Published 2018-03-01
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  9. 9
    Phenotypic and Genetic Complexity in Pediatric Movement Disorders

    Phenotypic and Genetic Complexity in Pediatric Movement Disorders by Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Tae-Sung Ko, Beom Hee Lee

    Published 2022-06-01
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  10. 10
    A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR

    A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE‐1 insertion in LDLR by Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee

    Published 2024-03-01
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  11. 11
    P660: Accelerating novel gene discovery utilizing a constraint-based method on exome sequencing data of 23,670 patients

    P660: Accelerating novel gene discovery utilizing a constraint-based method on exome sequencing data of 23,670 patients by Won Chan Jeong, Kisang Kwon, Seung Woo Ryu, Heonjong Han, Jungsul Lee, Go Hun Seo, Hane Lee

    Published 2023-01-01
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  12. 12
    A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

    A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing by Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

    Published 2018-03-01
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  13. 13
    Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

    Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders by Min-Jee Kim, Mi-Sun Yum, Go Hun Seo, Yena Lee, Han Na Jang, Tae-Sung Ko, Beom Hee Lee

    Published 2020-11-01
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  14. 14
    Recent Advances in the Application of Antibacterial Complexes Using Essential Oils

    Recent Advances in the Application of Antibacterial Complexes Using Essential Oils by Tae Jin Cho, Sun Min Park, Hary Yu, Go Hun Seo, Hye Won Kim, Sun Ae Kim, Min Suk Rhee

    Published 2020-04-01
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  15. 15
    Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion

    Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion by Bong Jik Kim, Hyoungwon Jeon, Sang-Yeon Lee, Nayoung Yi, Jin Hee Han, Go Hun Seo, Seung-Ha Oh, Byung Yoon Choi

    Published 2022-02-01
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  16. 16
    Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

    Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family by Seung Woo Ryu, Ji‐Hee Yoon, Dong‐wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Lee

    Published 2024-03-01
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  17. 17
    Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

    Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort by Yoon-Jeon Kim, You-Na Kim, Young-Hee Yoon, Eul-Ju Seo, Go-Hun Seo, Changwon Keum, Beom-Hee Lee, Joo-Yong Lee

    Published 2021-04-01
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  18. 18
    Turner syndrome presented with tall stature due to overdosage of the gene

    Turner syndrome presented with tall stature due to overdosage of the gene by Go Hun Seo, Eungu Kang, Ja Hyang Cho, Beom Hee Lee, Jin-Ho Choi, Gu-Hwan Kim, Eul-Ju Seo, Han-Wook Yoo

    Published 2015-06-01
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  19. 19
    Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

    Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay by Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2016-01-01
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  20. 20
    Genetic heterogeneity of cardiomyopathy and its correlation with patient care

    Genetic heterogeneity of cardiomyopathy and its correlation with patient care by Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Jeong Jin Yu, Go Hun Seo, Minji Kang, Hyo-Sang Do, Sang Eun Lee, Beom Hee Lee

    Published 2023-10-01
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