Ngā hua rapu - Go Hun Seo

  • E whakaatu ana i te 1 - 9 hua o te 9
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  1. 1
    Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility

    Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological mal... mā Mahmoud El‐Badry, Elsayed Abdelkreem, Ahmed Tawfeek, Go Hun Seo, Shereen P Aziz

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing

    In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing mā Ju Ang Kim, Bong Jik Kim, Chung Lee, Go Hun Seo, Hane Lee, Jin Hee Han, Ava Niazi, Joosang Park, Byung Yoon Choi, Sungjin Park

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

    Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders mā Heonjong Han, Go Hun Seo, Seong‐In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, Jihye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dongwook Kim, Soyeon Yang, SoHyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight

    High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight mā Bruna Lucheze Freire, Thaís Kataoka Homma, Antônio Marcondes Lerário, Go Hun Seo, Heonjong Han, Mariana Ferreira de Assis Funari, Nathália Lisboa Gomes, Carla Rosemberg, Ana Cristina Victorino Krepischi, Gabriela de Andrade Vasques, Alexsandra C. Malaquias, Alexander A.L. Jorge

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

    Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome mā Miriam Essid, Sana Karoui, M. Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, S. Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaëtan Lesca, Nicolas Chatron

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Skewed X-chromosome inactivation in women with idiopathic intellectual disability as indicative of pathogenic variants

    Skewed X-chromosome inactivation in women with idiopathic intellectual disability as indicative of pathogenic variants mā Luiza Dias Chaves, Laura Machado Lara Carvalho, Giovanna Cantini Tolezano, Sara Ferreira Pires, Silvia Souza da Costa, Marília O. Scliar, Liane de Rosso Giuliani, Débora Romeo Bertola, Cíntia Barros Santos-Rebouças, Go Hun Seo, Paulo Alberto Otto, Carla Rosenberg, Angela Maria Vianna‐Morgante, Ana Cristina Victorino Krepischi

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Pré-impressão
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  7. 7
    Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

    Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants mā Luiza Dias Chaves, Laura Machado Lara Carvalho, Giovanna Cantini Tolezano, Sara Ferreira Pires, Silvia Souza da Costa, Marília O. de Scliar, Liane de Rosso Giuliani, Débora Romeo Bertola, Cíntia Barros Santos-Rebouças, Go Hun Seo, Paulo Alberto Otto, Carla Rosenberg, Angela Maria Vianna‐Morgante, Ana Cristina Victorino Krepischi

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, <scp>EVIDENCE</scp>

    Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, <scp>EVIDENCE</scp> mā Go Hun Seo, Tae Ho Kim, In Hee Choi, Jung‐Young Park, Jungsul Lee, Sehwan Kim, Dhong‐gun Won, Arum Oh, Yena Lee, Jeongmin Choi, Hajeong Lee, Hee Gyung Kang, Hee Yeon Cho, Min Hyun Cho, Yoon Jeon Kim, Young Hee Yoon, Baik‐Lin Eun, Robert J. Desnick, Changwon Keum, Beom Hee Lee

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

    Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy mā Yoon-Myung Kim, Mi‐Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Jae‐sung Bae, Go Hun Seo, Arum Oh, Hee Mang Yoon, Hyun Taek Lim, Hyo‐Won Kim, Tae‐Sung Ko, Hyeong‐Seok Lim, Mark J. Osborn, Jakub Tolar, Claudia Cozma, Arndt Rolfs, Ari Zimran, Beom Hee Lee, Han‐Wook Yoo

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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