Resultados de búsqueda - Go Hun Seo

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

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

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

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

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

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

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

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

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Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis por Abbas Tafakhori, Zahra Sarvestani, Ariana Kariminejad, Homa Tajsharghi, Go Hun Seo, Seung Woo Ryu, Sanaz Heydari Havadaragh

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Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes por Amina Iftikhar Butt, Fariya Khan Bazai, Kaleemullah Kakar, Shakeela Daud, Go Hun Seo, Jamil Ahmad, Sadaf Naz

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A first large study of whole-exome sequencing (WES) in 489 patients with suspected rare genetic disorders at a tertiary centre in Malaysia por Lip Hen Moey, Go Hun Seo, Boon Eu Cheah, Wee Teik Keng, Hane Lee, Gaik Siew Ch’ng

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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination por Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn

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

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Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families por Faiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, Elizabeth Wohler, Go Hun Seo, Weizhen Ji, Saquib A. Lakhani, Nara Sobreira, Sadaf Naz

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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy por Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

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Timely Diagnosis of PAX2-Related Disorder by Rapid Whole-Genome Sequencing in a Critically Ill Neonate with Bilateral Renal Hypoplasia: A Three-Generation Case Report por Jinhee Kim, Hyeseon Kim, So Yoon Ahn, Se In Sung, Yun Sil Chang, Mi-Ae Jang, Sohyun Lee, Go Hun Seo, Misun Yang

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

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

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

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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

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