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Epilepsia|February 8, 2012
Mutations of the SCN1A gene in acute encephalopathyMakiko Saitoh, Mayu Shinohara, Hideki Hoshino, et al.
Korean Journal of Pediatrics|July 28, 2016
Clinical importance of F-waves as a prognostic factor in Guillain-Barré syndrome in childrenEung-Bin Lee, Yun Young Lee, Jae Min Lee, et al.
Annals of Indian Academy of Neurology|March 10, 2021
Clinical Experience of Nusinersen in a Broad Spectrum of Spinal Muscular Atrophy: A Retrospective StudyAe Ryoung Kim, Jong-Mok Lee, Yu-Sun Min, et al.
Free Radical Biology & Medicine|May 13, 2024
L-serine restored lysosomal failure in cells derived from patients with BPAN reducing iron accumulation with eliminating lipofuscinHye Eun Lee, Minkyo Jung, Kiju Choi, et al.
Clinical and Experimental Pediatrics|February 6, 2020
Variation in clinical usefulness of biomarkers of acute kidney injury in young children undergoing cardiac surgeryHee Sun Baek, Youngok Lee, Hea Min Jang, et al.
Molecular Brain|May 25, 2016
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutationSu-Kyeong Hwang, Jae-Hyung Lee, Jung-Eun Yang, et al.
Journal of Clinical Neurology (Seoul, Korea)|January 17, 2020
Real-Life Effectiveness and Tolerability of Perampanel in Pediatric Patients Aged 4 Years or Older with Epilepsy: A Korean National Multicenter StudySu Kyeong Hwang, Yun Jin Lee, Sang Ook Nam, et al.
Hormone Research in Paediatrics|March 14, 2015
Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome SequencingYe Jee Shim, Jung Eun Kim, Su-Kyeong Hwang, et al.
Translational Pediatrics|January 3, 2022
Case report of compound <i>CFTR</i> variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel diseaseHyejin Park, Jinwoo Kim, Sujin Choi, et al.
Translational Pediatrics|June 30, 2021
Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the <i>SMAD4</i> geneBen Kang, Su-Kyeong Hwang, Sujin Choi, et al.
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