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진료시간표
요일 | 월 | 화 | 수 | 목 | 금 | 토 |
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오전 | ||||||
오후 |
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
European Journal of Human Genetics
2024
Outcomes of the second withdrawal of anti‐seizure medication in patients with pediatric‐onset epilepsy
Epilepsia
2023
Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea
Frontiers in Neurology
2023
Expansion of clinico-genetic spectrum of PRDX3 disease: a literature review with two additional cases
Brain Communications
2023
Expanding association between BICD2 variants and brain malformations and associated lissencephaly
Clinical and Experimental Pediatrics
2023
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
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred …
Scientific Reports
2020
Elevated serum uric acid in benign convulsions with mild gastroenteritis in children
Journal of Clinical Neurology
2019
FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy
Epilepsy Research
2017
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation
Journal of Child Neurology
2017
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