Arama Sonuçları - Jong-Hee Chae

A compound heterozygous mutation in the gene: the first pediatric case causes fish odor syndrome in Korea Yazar: Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae

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The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder Yazar: Seungbok Lee, Seungbok Lee, Se Song Jang, Soojin Park, Jihoon G. Yoon, Soo Yeon Kim, Soo Yeon Kim, Byung Chan Lim, Jong Hee Chae, Jong Hee Chae

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Neonatal-Onset Encephalopathy: A Rare Korean Case with Hypophosphatasia Yazar: Min Jun Chun, Yeon Sook Moon, Woo Ri Jang, Jong Hee Chae, Young Se Kwon

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A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation Yazar: Se Hee Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Yong Seung Hwang

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Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients Yazar: Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

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Expanding the Clinical and Genetic Spectrum of Caveolinopathy in Korea Yazar: Seungbok Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Anna Cho

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Aplastic Anemia, Mental Retardation, and Dwarfism Syndrome Associated with Aldh2 and Adh5 Mutations Yazar: Bomi Lim, Anna Cho, Jaehyun Kim, Sang Mee Hwang, Soo Yeon Kim, Jong-Hee Chae, Hyoung Soo Choi

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Short Course and Early Switch of Vigabatrin for Infantile spasms Yazar: Hye Won Ryu, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim

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Characterizing Families of Pediatric Patients with Rare Diseases and Their Diagnostic Odysseys: A Comprehensive Survey Analysis from a Single Tertiary Center in Korea Yazar: Jaeso Cho, Young Shin Joo, Jihoon G. Yoon, Seung Bok Lee, Soo Yeon Kim, Jong Hee Chae, Yong Jin Kwon

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A case of Becker muscular dystrophy with early manifestation of cardiomyopathy Yazar: Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim, Byung Chan Lim, Hui Hwang, Ki Joong Kim, Yong Seung Hwang, Jong-Hee Chae

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Deep Phenotyping in 1p36 Deletion Syndrome Yazar: Youngkyu Shim, Young Jun Go, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jieun Choi, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

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Expanding association between BICD2 variants and brain malformations and associated lissencephaly Yazar: Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae

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Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations Yazar: Ji Yeon Han, Seungbok Lee, Hyewon Woo, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae

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Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement Yazar: Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim

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Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus Yazar: Jieun Choi, Sun Ah Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Sohee Oh, Jeon-Soo Shin

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Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study Yazar: Hey-Joon Son, Minhye Kim, Hye Jin Kim, Jae So Cho, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae, Woo Joong Kim

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Generalized Tonic-Clonic Seizures after Self-Limited Epilepsy with Centrotemporal Spikes: A Case Series Yazar: Hye Jin Kim, Young Joon Ko, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim

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Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population Yazar: Woo Joong Kim, Young Kyu Shim, Young Jun Ko, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae

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The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center Yazar: Young Jun Ko, Young Kyu Shim, Woo Joong Kim, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong-Hee Chae, Ji Eun Choi, Ki Joong Kim, Byung Chan Lim

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A case of isodicentric chromosome 15 presented with epilepsy and developmental delay Yazar: Jon Soo Kim, Jinyu Park, Byung-Joo Min, Sun Kyung Oh, Jin Sun Choi, Mi Jung Woo, Jong-Hee Chae, Ki Joong Kim, Yong Seung Hwang, Byung Chan Lim

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