A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

한지연 ,  김수연 ,  천정은 외 3명

Journal of Clinical Neurology

2020 .01

Adrenomyeloneuropathy with cerebral involvement due to a novel frameshift variant in ABCD1 gene

Hye Weon Kim ,  Hyunjin Kim ,  Dongyoung Jeong 외 4명

Annals of Clinical Neurophysiology

2021 .01

Novel ABCD1 Gene Mutation in a Korean Patient with X-Linked Adrenoleukodystrophy Presenting with Addison’s Disease

조윤경 ,  이서영 ,  김상욱

Endocrinology and Metabolism

2020 .01

A Little-Known Brain Imaging Feature in Neuromyelitis Optica Spectrum Disorder: A Leukodystrophy-Like Pattern

이준석 ,  최문경 ,  이재준 외 1명

Journal of Clinical Neurology

2019 .01

Validation of Biomarker-Based ABCD Score in Atrial Fibrillation Patients with a Non-Gender CHA2DS2-VASc Score 0–1: A Korean Multi-Center Cohort

정문기 ,  변경민 ,  강기운 외 22명

Yonsei Medical Journal

2022 .10

Early Detection of Subungual Melanoma In Situ: Proposal of ABCD Strategy in Clinical Practice Based on Case Series

이재호 ,  박지혜 ,  이종희 외 1명

Annals of Dermatology

2018 .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

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

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

Acquired Brachial Cutaneous Dyschromatosis in a Middle Aged Male

최민정 ,  변지연 ,  최혜영 외 1명

Annals of Dermatology

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

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Sujayend ,  a Kulka ,  ni 외 13명

Blood Research

2021 .12

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

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy

송정한 ,  이승준 ,  송상훈 외 7명

Annals of Laboratory Medicine

2015 .01

생화학 및 분자유전학 검사로 진단한 한국인 조기유년기형 이염성백질이영양증 1례와 문헌 고찰

김영빈 ,  박형두 ,  최리화 외 5명

Laboratory Medicine Online

2017 .01

Mutation Analysis of IDH1/2 Genes in Unselected De novo Acute Myeloid Leukaemia Patients in India - Identification of A Novel IDH2 Mutation

Raveend ,  an ,  Su 외 22명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma

Yen-Hsiang Huang ,  Kuo-Hsuan Hsu ,  Jeng-Sen Tseng 외 9명

Cancer Research and Treatment

2018 .01