Go Hun Seo - Div Med Genet, 3Billion Inc

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Papers共 122 篇Author StatisticsCo-AuthorSimilar Experts

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A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR

Yongjun Song,Reham Abdel Haleem Abo Elwafa,Omneya Magdy Omar,Go Hun Seo,Hane Lee

MOLECULAR GENETICS & GENOMIC MEDICINE（2024）

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Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing

Miriam E Reyna-Fabián, Liliana Fernández-Hernández, Sergio Enríquez-Flores, David Apam-Garduño, Carolina Prado-Larrea,Go Hun Seo, Rin Khang, Vianney Cortés-González

Scientific reportsno. 1 (2024): 14380-14380

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Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report

Yun Jung Ko,Seonkyeong Rhie,Jihyun Baek,Go Hun Seo,So-Young Lee

Journal of the Pakistan Medical Associationno. 1 (2024): 149-152

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Whole exome sequencing in Serbian patients with hereditary spastic paraplegia

Marija Brankovic, Vukan Ivanovic,Ivana Basta,Rin Khang,Eugene Lee,Zorica Stevic, Branislav Ralic, Radoje Tubic,GoHun Seo,Vladana Markovic,Ivo Bozovic,Marina Svetel,

neurogenetics (2024): 1-13

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Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

Sonya Watson,Kathie J Ngo, Hannah A Stevens,Darice Y Wong, Jihye Kim,Yongjun Song, Beomman Han,Seong-In Hyun,Rin Khang,Seung Woo Ryu,Eugene Lee,Gohun Seo,

Neurology. Genetics（2024）

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Novel biallelic variants expand the phenotypic spectrum of FAR1-related disorder

Hatice Tasan,Arisha Rasheed, Amatul Raqeeb, Jonas Setzke,Barbara Vona,Go Hun Seo,Yamna Kriouile,Javeria Raza Alvi,Elisa Cali, Vincenzo Salpietro,Tipu Sultan, Reza Maroofian,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 536-536

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High prevalence of ALPK3 premature terminating variants in Korean hypertrophic cardiomyopathy patients

Seung Woo Ryu, Won Chan Jeong,Geu Ru Hong, Jung Sun Cho,Soo Yong Lee, Hyungseop Kim, Jeong Yoon Jang,Sun Hwa Lee,Dae-Hwan Bae,Jae Yeong Cho, Ji Hee Kim, Kyung-Hee Kim,

Frontiers in Cardiovascular Medicine (2024)

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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

Jun Hee Cho,Soojin Hwang, Yoon Hae Kwak,Mi-Sun Yum,Go Hun Seo, June-Young Koh,Young Seok Ju,Ji-Hee Yoon,Minji Kang,Hyo-Sang Do, Soyoung Kim,Gu-Hwan Kim,

MOLECULAR GENETICS & GENOMIC MEDICINE（2024）

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Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

Dan Tomomasa,Beom Hee Lee, Yuki Hirata,Yuzaburo Inoue,Hidetaka Majima,Yusuke Imanaka,Takaki Asano, Takashi Katakami, Jina Lee,Atsushi Hijikata, Wittawin Worakitchanon, Xi Yang,

Journal of Clinical Immunologyno. 5 (2024): 1-14

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Vincenzo Salpietro, Reza Maroofian,Maha S. Zaki,Jamie Wangen,Andrea Ciolfi,Sabina Barresi,Stephanie Efthymiou,Angelique Lamaze,Gabriel N. Aughey,Fuad Al Mutairi,Aboulfazl Rad,Clarissa Rocca,

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 200-210

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