Resultados de búsqueda - Byung Chan Lim

A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation por 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 por 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 por Seungbok Lee, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Anna Cho

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

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A case of Becker muscular dystrophy with early manifestation of cardiomyopathy por 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 por 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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Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations por 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 por 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 por 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 por 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 por 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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The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder por 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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Clinical and Genetic Spectrum of Encephalopathy in the Korean Pediatric Population por 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 por 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 por 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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Low-dose mitotane-induced neurological and endocrinological complication in a 5-year-old girl with adrenocortical carcinoma por You Joung Heo, Jae Ho Yoo, Yun Soo Choe, Sang Hee Park, Seung Bok Lee, Hyun A Kim, Jung Yoon Choi, Young Ah Lee, Byung Chan Lim, Hee Won Chueh

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Corrigendum: Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy por Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

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Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy por Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae

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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth por Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi

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