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진료시간표
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Jaeso Cho, Ji Yeon Han, Anna Cho, Sooyoung Yoo, Ho-Young Lee, Hunmin Kim
Enhancing Clinical History Taking Through the Implementation of a Streamlined Electronic Questionnaire System at a Pediatric Headache Clinic: Development and Evaluation Study.
JMIR Med Inform
2024 ;12 :e54415 -e54415
Jong Hyeon Ahn, Jihoon G Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
NPJ Genom Med
2024 ;9 (1) :63 -63
Seungbok Lee, Jihoon G Yoon, Juhyeon Hong, Taekeun Kim, Narae Kim, Jana Vandrovcova, Wai Yan Yau, Jaeso Cho, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jungmin Choi, Jangsup Moon, Jong-Hee Chae
Prevalence and Characterization of NOTCH2NLC GGC Repeat Expansions in Koreans: From a Hospital Cohort Analysis to a Population-Wide Study.
Neurol Genet
2024 ;10 (3) :e200147 -e200147
Jihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, Seungbok Lee, Jaeso Cho, Soo Yeon Kim, Hyun Yong Koh, Annapurna H Poduri, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Martijn J de Groot, Jung Min Ko, Dohyun Han, Jong-Hee Chae, Chul-Hwan Lee
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Am J Hum Genet
2024 ;111 (8) :1588 -1604
Hye Jin Kim, Minhye Kim, Seoyun Jang, Jae So Cho, Soo Yeon Kim, Anna Cho, Hunmin Kim, Byung Chan Lim, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, WooJoong Kim
SYNGAP1-related developmental and epileptic encephalopathy: Genotypic and phenotypic characteristics and longitudinal insights.
Am J Med Genet A
2024 ;194 (8) :e63606 -e63606
Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae
Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
Clin Exp Pediatr
2024 ;67 (1) :54 -56
Cho-Rong Lee, Jungyo Suh, Dongjun Jang, Bo-Yeong Jin, Jaeso Cho, Moses Lee, Hyungtai Sim, Minyong Kang, Jueun Lee, Ju Hyun Park, Kyoung-Hwa Lee, Geum-Sook Hwang, Kyung Chul Moon, Cheryn Song, Ja Hyeon Ku, Cheol Kwak, Hyeon Hoe Kim, Sung-Yup Cho, Murim Choi, Chang Wook Jeong
Comprehensive molecular characterization of TFE3-rearranged renal cell carcinoma.
Exp Mol Med
2024 ;56 (8) :1807 -1815
Jihoon G Yoon, Seungbok Lee, Jaeso Cho, Narae Kim, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Jangsup Moon, Jong-Hee Chae
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.
Eur J Hum Genet
2024 ;32 (5) :584 -587
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
Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement.
Clin Exp Pediatr
2023 ;66 (3) :142 -144
Yun Jeong Lee, Ae Ryoung Kim, Jong-Mok Lee, Young Kyu Shim, Jae So Cho, Hye Won Ryu, Soonhak Kwon, Jong-Hee Chae
Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6?months.
Muscle Nerve
2023 ;68 (4) :404 -413
Hyungjin Chin, Jaeso Cho, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae
A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis.
Child Neurol Open
2023 ;10 :2329048X231210421 -2329048X231210421
Jaeso Cho, Hunmin Kim, Jong Hee Chae, Ki Joong Kim, Byung Chan Lim
Outcomes of the second withdrawal of anti-seizure medication in patients with pediatric-onset epilepsy.
Epilepsia
2023 ;64 (6) :e93 -e97
Jaeso Cho, Jihoon G Yoon, Seungbok Lee, Sheehyun Kim, Soo Yeon Kim, Man Jin Kim, Jangsup Moon, Jong-Hee Chae
Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases.
Brain Commun
2023 ;5 (5) :fcad233 -fcad233
Jaeso Cho, Jiwon Lee, Jihye Kim, Hyunjoo Lee, Min-Jee Kim, Yun Jeong Lee, Mi-Sun Yum, Ji-Hye Byun, Chong Guk Lee, Young-Mock Lee, Jeehun Lee, Jong-Hee Chae
Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea.
Front Neurol
2023 ;14 :1294028 -1294028
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