제1형 당뇨병이 발생하여 진단된 MELAS 증후군 1예

정찬현 ,  노은 ,  안창호 외 4명

대한내과학회지

2015 .01

The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

백민성 ,  김세훈 ,  이영목

Yonsei Medical Journal

2019 .01

Rare Phenotypic Manifestations of MELAS

Josef Finste ,  e

Yonsei Medical Journal

2020 .01

Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report

Song ,  Wung Joo ,  Lee 외 11명

Journal of genetic medicine

2019 .01

Magnetic Resonance Imaging and Spectroscopy of the Brain in MELAS Syndrome

Keizo Tanitame ,  Nobuko Tanitame

전남의대학술지

2023 .01

Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS

Josef Finste ,  e

Yonsei Medical Journal

2019 .01

Dental treatment of a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome under general anesthesia: a case report

Hanbyeol Kim ,  Hyuntae Kim ,  Ji-Soo Song 외 5명

International Journal of Disability and Oral Health

2022 .12

The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS

이영목

Yonsei Medical Journal

2019 .01

제1형 당뇨병, 소뇌 실조, 진행성 난청을 수반하는 MELAS 증후군 환자 1예

강순성 ,  심현준 ,  이웅우 외 1명

대한이비인후-두경부외과학회지

2023 .06

Dexmedetomidine as a non-triggering anesthetic agent in a patient with MELAS syndrome and systemic sepsis - A case report -

김상훈 ,  박수영 ,  정기태

Anesthesia and Pain Medicine

2019 .01

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses

김희정 ,  김순기 ,  유기영 외 5명

Annals of Laboratory Medicine

2019 .01

다양한 임상경과를 보인 멜라스(MELAS, mitochondrial encephalopathy, lactic acidosis, and stroke-like episode) 증후군 2례

최서열 ,  이승호 ,  명나혜 외 2명

대한유전성대사질환학회지

2016 .01

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

Clinical Characteristics of Diabetes in People with Mitochondrial DNA 3243A>G Mutation in Korea

노은후 ,  백상익 ,  Lee Hee 외 5명

Diabetes and Metabolism Journal

2024 .05

Genotype–Phenotype Correlation of the <I>RNF213</I> R4810K Variant in Moyamoya Disease

Taedong Ok ,  Yo Han Jung ,  Kyung-Yul Lee

대한뇌졸중학회지

2023 .05

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism

Zhang Hai-Yang ,  Wu Feng-Yao ,  Li Xue-Song 외 9명

Annals of Laboratory Medicine

2024 .07

Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022

KyungA Yun ,  Ji Hee Kim ,  Na Hee Kwon 외 3명

JOURNAL OF BACTERIOLOGY AND VIROLOGY

2022 .12

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

일반원고 4 - 2016 동물보호문화축제를 다녀와서_…

김순재

대한수의사회지

2016 .01