Resultados de procura - Go Hun Seo

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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... por Mahmoud El‐Badry, Elsayed Abdelkreem, Ahmed Tawfeek, Go Hun Seo, Shereen P Aziz

    Publicado 2025
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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 por 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

    Publicado 2025
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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 por 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

    Publicado 2025
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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 por 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

    Publicado 2022
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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 por 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

    Publicado 2025
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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 por 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

    Publicado 2022
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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 por 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

    Publicado 2023
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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> por 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

    Publicado 2020
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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 por 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

    Publicado 2019
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