Preserved Glucose Metabolism of Deep Cerebellar Nuclei in a Case of Multiple System Atrophy with Predominant Cerebellar Ataxia: F-18 Fluorodeoxyglucose Positron Emission Tomography... by Oh Dae Kwon, Chang-Seok Ki

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Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy by Jiwon Lee, Chung Lee, Chang‐Seok Ki, Jeehun Lee

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Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis by Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki

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Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis by Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki

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A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features by Na won Lee, Ji Eun Jeong, Young Hwan Kim, Chang Seok Ki, Jin Kyung Kim

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The association between gut microbiome and hypertension varies according to enterotypes: a Korean study by Ju Sun Song, Ju Sun Song, Joung Ouk Ryan Kim, Sung Min Yoon, Min-Jung Kwon, Chang-Seok Ki

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Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope by Sung Ho Lee, Jong Eun Park, Chang-Seok Ki, Seung-Jung Park, Young Keun On, Kyoung-Min Park, June Soo Kim

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Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene by Ka Young Kim, You Joung Heo, Jung Min Ko, Young Ah Lee, Choong Ho Shin, Chang Seok Ki, Yun Jeong Lee

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Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT) by Junnam Lee, Junnam Lee, Sae-Mi Lee, Jin Mo Ahn, Tae-Rim Lee, Wan Kim, Eun-Hae Cho, Chang-Seok Ki

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Identification of two novel COL3A1 variants in patients with vascular Ehlers‐Danlos syndrome by Won Young Heo, Shin Yi Jang, Taek Kyu Park, Chang‐Seok Ki, Jong‐Won Kim, Duk‐Kyung Kim, Ja‐Hyun Jang

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Progranulin haploinsufficiency mediates cytoplasmic TDP-43 aggregation with lysosomal abnormalities in human microglia by Wonjae Sung, Min-Young Noh, Minyeop Nahm, Yong Sung Kim, Chang-Seok Ki, Young-Eun Kim, Hee-Jin Kim, Seung Hyun Kim

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Ring Finger Protein 213 Variant and Plaque Characteristics, Vascular Remodeling, and Hemodynamics in Patients With Intracranial Atherosclerotic Stroke: A High‐Resolution Magnetic R... by Eun‐Hyeok Choi, Hanul Lee, Jong‐Won Chung, Woo‐Keun Seo, Gyeong‐Moon Kim, Chang‐Seok Ki, Yoon‐Chul Kim, Oh Young Bang

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An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data by Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim, Seung Hyun Kim

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First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review by Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin

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Klebsiella pneumoniae Co-Producing NDM-5 and OXA-181 Carbapenemases, South Korea by Sun Young Cho, Hee Jae Huh, Jin Yang Baek, Na Yeon Chung, Jae Geum Ryu, Chang-Seok Ki, Doo Ryeon Chung, Nam Yong Lee, Jae-Hoon Song

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Age-associated mortality is partially mediated by TERT promoter mutation status in differentiated thyroid carcinoma. by Jung Heo, Sungjoo Lee, Jun Park, Heera Yang, Hyunju Park, Chang-Seok Ki, Young Lyun Oh, Hye In Kim, Sun Wook Kim, Jae Hoon Chung, Kyunga Kim, Tae Hyuk Kim

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Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general popu... by Hee-Jin Kim, Ja-Young Seo, Ki-O Lee, Sung-Hwan Bang, Seung-Tae Lee, Chang-Seok Ki, Jong-Won Kim, Chul Won Jung, Duk-Kyung Kim, Sun-Hee Kim

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Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA by Mingyun Bae, Gyuhee Kim, Tae-Rim Lee, Jin Mo Ahn, Hyunwook Park, Sook Ryun Park, Ki Byung Song, Eunsung Jun, Dongryul Oh, Jeong-Won Lee, Young Sik Park, Ki-Won Song, Jeong-Sik Byeon, Bo Hyun Kim, Joo Hyuk Sohn, Min Hwan Kim, Gun Min Kim, Eui Kyu Chie, Hyun-Cheol Kang, Sun-Young Kong, Sang Myung Woo, Jeong Eon Lee, Jai Min Ryu, Junnam Lee, Dasom Kim, Chang-Seok Ki, Eun-Hae Cho, Jung Kyoon Choi

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