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Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
Journal of Clinical Neurology
2017 .01
A familial case of limb-girdle muscular dystrophy with CAV3 mutation
Journal of genetic medicine
2019 .01
Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
Annals of Laboratory Medicine
2017 .07
Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Journal of genetic medicine
2017 .01
Infantile-Onset LMNA-Related Congenital Muscular Dystrophy Presenting as Torticollis: A Case Report
대한근전도 전기진단의학회지
2023 .04
A Patient With Late-onset Limb-girdle Muscular Dystrophy Type 2B Mimicking Dermatomyositis: A Case Report and Review
대한류마티스학회지
2021 .01
Magnetic Resonance Imaging as a Biomarker for Duchenne Muscular Dystrophy
한국전문물리치료학회지
2015 .01
초기 척추관절병증과 혼동되었던 체간 근육의 위약을 동반한 근지대형 근디스트로피, 2A형: 증례 보고
대한근전도 전기진단의학회지
2019 .01
Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects
Yonsei Medical Journal
2017 .01
Correction: Reliability and Validity of the Korean Version of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool
Annals of Rehabilitation Medicine
2023 .06
Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1
Annals of Laboratory Medicine
2024 .09
근이영양증으로 인한 사망의 사법부검 사례 경험: 증례 보고
대한법의학회지
2018 .01
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort
Journal of Clinical Neurology
2017 .01
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
Cardiac function associated with home ventilator care in Duchenne muscular dystrophy
Korean journal of pediatrics
2018 .01
Retinal Dystrophy Associated with a Novel RP2 Exon1 Deletion with Simultaneous TGFBI Point Mutation in Two Male Siblings: Case Report
Journal of Retina
2024 .05
Corrigendum: Cardiac function associated with home ventilator care in Duchenne muscular dystrophy
Korean journal of pediatrics
2019 .01
Therapeutic Efficacy of Combination Therapy Using Oral Cyclosporine with a Dietary Supplement (PantogarⓇ) in Twenty-Nail Dystrophy
Annals of Dermatology
2017 .01
Esophagostomy as an Alternative to Gastrostomy for Dysphagia in Muscular Dystrophy: A Case Report
대한연하장애학회지
2020 .01
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
Annals of Laboratory Medicine
2015 .01
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