Hasil Pencarian - Go Hun Seo

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  1. 1
    Growth hormone therapy in patients with Noonan syndrome

    Growth hormone therapy in patients with Noonan syndrome oleh Go Hun Seo, Han-Wook Yoo

    Diterbitkan 2018-12-01
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  2. 2
    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 oleh Yongjun Song, Reham Elwafa, Omneya Omar, Hane Lee, Go Hun Seo

    Diterbitkan 2023-01-01
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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 oleh Kisang Kwon, Seong-in Hyun, Heonjong Han, Go Hun Seo, Hane Lee

    Diterbitkan 2023-01-01
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  4. 4
    Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss

    Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss oleh Hina Khan, Fariha Muzaffar, Midhat Salman, Rasheeda Bashir, Go Hun Seo, Sadaf Naz

    Diterbitkan 2024-09-01
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  5. 5
    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 oleh Yun Jung Ko, Seonkyeong Rhie, Jihyun Baek, Go Hun Seo, So-Young Lee

    Diterbitkan 2023-12-01
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  6. 6
    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 oleh Mi Ra Kim, Eun-Gyong Yoo, Seonkyeong Rhie, Go Hun Seo, Mo Kyung Jung

    Diterbitkan 2022-06-01
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  7. 7
    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 oleh Seung Ho Kim, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Jeesuk Yu

    Diterbitkan 2023-01-01
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  8. 8
    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 oleh Tayyaba Ishaq, Petra Loid, Hafiza Abida Ishaq, Go Hun Seo, Outi Mäkitie, Sadaf Naz

    Diterbitkan 2023-09-01
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  9. 9
    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 oleh Dai Jung, Go Hun Seo, Yoon-Myung Kim, Jin-Ho Choi, Han-Wook Yoo

    Diterbitkan 2018-03-01
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  10. 10
    Phenotypic and Genetic Complexity in Pediatric Movement Disorders

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

    Diterbitkan 2022-06-01
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  11. 11
    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 oleh Yongjun Song, Reham Abdel Haleem Abo Elwafa, Omneya Magdy Omar, Go Hun Seo, Hane Lee

    Diterbitkan 2024-03-01
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  12. 12
    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 oleh Won Chan Jeong, Kisang Kwon, Seung Woo Ryu, Heonjong Han, Jungsul Lee, Go Hun Seo, Hane Lee

    Diterbitkan 2023-01-01
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  13. 13
    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 oleh Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

    Diterbitkan 2018-03-01
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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 oleh Tae Jin Cho, Sun Min Park, Hary Yu, Go Hun Seo, Hye Won Kim, Sun Ae Kim, Min Suk Rhee

    Diterbitkan 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 oleh Bong Jik Kim, Hyoungwon Jeon, Sang-Yeon Lee, Nayoung Yi, Jin Hee Han, Go Hun Seo, Seung-Ha Oh, Byung Yoon Choi

    Diterbitkan 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 oleh Seung Woo Ryu, Ji‐Hee Yoon, Dong‐wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Lee

    Diterbitkan 2024-03-01
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  17. 17
    Turner syndrome presented with tall stature due to overdosage of the gene

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

    Diterbitkan 2015-06-01
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  18. 18
    Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous Mutation

    Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous Mutation oleh So Jeong Kim, Jeong Eun Lee, Hyun Duck Kwak, Mi Seon Kang, Seong Ah Yu, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung

    Diterbitkan 2021-12-01
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  19. 19
    Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing

    Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing oleh Miriam E. Reyna-Fabián, Liliana Fernández-Hernández, Sergio Enríquez-Flores, David Apam-Garduño, Carolina Prado-Larrea, Go Hun Seo, Rin Khang, Vianney Cortés-González

    Diterbitkan 2024-06-01
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  20. 20
    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 oleh Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Diterbitkan 2016-01-01
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