성인에서 원위근병증으로 발현된 네말린근병증

박기홍 ,  손성연 ,  신제영 외 4명

Annals of Clinical Neurophysiology

2016 .01

A Case Report of Congenital Fixed Dilated Pupils Due to ACTA2 Gene Mutation: Multisystemic Smooth Muscle Dysfunction Syndrome

Jae Ryong Song ,  Dong Hyun Kim

Korean Journal of Ophthalmology

2024 .06

Myopathy, Drugs, and Mitochondria

김종민

Journal of Korean Medical Science

2017 .01

Novel Mutation of the GNE Gene Presenting Atypical Mild Clinical Feature: A Korean Case Report

박성혜 ,  김기원 ,  이유빈 외 1명

Annals of Rehabilitation Medicine

2015 .01

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing

Yoong-a Suh ,  Young Bae Sohn ,  Moon Sung Pa 외 2명

Neonatal medicine

2021 .01

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Seung Heo ,  Ja-Hyun Jang ,  Jeesuk Yu

Annals of Pediatirc Endocrinology & Metabolism

2019 .01

Advances in Idiopathic Inflammatory Myopathies Classification: Paving the Way for Personalized Management

Jin-Woo Pa ,  k ,  Byung-Jo Kim

Journal of Clinical Neurology

2024 .01

[S4-3] Assessment of brain and nervous system function

Jae-Ho Shin

한국실험동물학회 학술발표대회 논문집

2024 .07

Occult HBV among Anti-HBc Alone: Mutation Analysis of an HBV Surface Gene and Pre-S Gene

김명희 ,  강소영 ,  이우인

Yonsei Medical Journal

2017 .01

GNE Myopathy with Prominent Axial Muscle Involvement

박진모 ,  신진홍 ,  박진성

Journal of Clinical Neurology

2018 .01

Frequency of K-RAS and N-RAS Gene Mutations in Colorectal Cancers in Southeastern Iran

Nase ,  i ,  Mohsen 외 11명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Mutation Analysis of the Dimer Forming Domain of the Caspase 8 Gene in Oral Submucous Fibrosis and Squamous Cell Carcinomas

Menon ,  Utha ,  a 외 15명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

A Case of Focal Myopathy With Neuropathy Caused by Intramuscular Vascular Malformation

Hojin Yoon ,  Byeong Jun Jeon ,  Joo Hye Sung 외 1명

Journal of Clinical Neurology

2023 .05

Electron Microscopy Pathology of ADSSL1 Myopathy

박형준 ,  이지은 ,  최경선 외 5명

Journal of Clinical Neurology

2017 .01

A Sudden Deterioration in Cognitive Functions as the Result of a Central Nervous System Lymphoma

이용경 ,  Jaewoon Chung ,  Hyuk Sung Kwon 외 4명

Dementia and Neurocognitive Disorders(대한치매학회지)

2018 .01

Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model

Aulia Khamas Heikhmakhtia ,  Abebe Tekle Ab ,  ha 외 2명

Journal of Korean Medical Science

2020 .01

Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

The Progression of SARS Coronavirus 2 (SARS-CoV2): Mutation in the Receptor Binding Domain of Spike Gene

Sinae Kim ,  Jong Ho Lee ,  Siyoung Lee 외 21명

Immune Network

2020 .10

Gene variant profiles and tumor metabolic activity as measured by FOXM1 expression and glucose uptake in lung adenocarcinoma

Ashley Goodman ,  Waqas Mahmud ,  Lela Buckingham

Journal of Pathology and Translational Medicine

2020 .01

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test

신희철 ,  이한별 ,  유태경 외 10명

Cancer Research and Treatment

2020 .01