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논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
뇌자기공명영상 검사를 통해 조기 발견된 제2형 뮤코다당증 1례
대한유전성대사질환학회지
2015 .01
24개월에 만성 화농성 비루를 주소로 내원하여 진단된 헌터 증후군 1례
대한유전성대사질환학회지
2015 .01
Clinical Spectrum and Short-term Effects of Enzyme Replacement Therapy for Mucopolysaccharidosis Type II
대한유전성대사질환학회지
2018 .01
Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders
Laboratory Medicine Online
2017 .01
Clinical Features, Molecular Analysis, and Outcome of ERT in Korean Patients with Mucopolysaccharidosis Type VI
대한유전성대사질환학회지
2016 .01
뇌전증 연축의 병인론 및 치료
대한소아신경학회지
2017 .01
Dental considerations for patients with Hunter syndrome
International Journal of Disability and Oral Health
2021 .06
Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing
대한유전성대사질환학회지
2017 .01
Mucopolysaccharidosis Type III: Overview and Future Therapeutic Approaches
Journal of mucopolysaccharidosis and rare disease
2017 .01
A Review of Recent Research in Treatment Approaches of Mucopolysaccharidosis (MPS)
Journal of mucopolysaccharidosis and rare disease
2017 .01
Association of lead in cord blood with an accelerated body mass increase at 18-27 months of age
환경독성보건학회 심포지엄 및 학술대회
2016 .06
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Endocrinology and Metabolism
2018 .01
대사증후군과 직업특성의 연관성
대한직업환경의학회 학술대회 논문집
2015 .11
A Novel SLC25A15 Mmutation Causing Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
대한소아신경학회지
2017 .01
트리클로로에틸렌(TCE)으로 인한 과민성 증후군 : 드레스 증후군(DRESS syndrome)으로 오인되기 쉬운 박탈성 피부염을 동반한 간독성 증후군
대한직업환경의학회 학술대회 논문집
2016 .11
Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Journal of genetic medicine
2018 .01
The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Korean journal of pediatrics
2018 .01
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Korean journal of pediatrics
2019 .01
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Pediatric Gastroenterology, Hepatology & Nutrition
2019 .01
원발성 쇼그렌 증후군에서 발생한 다발성 경화증 1예
대한내과학회지
2015 .01
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