Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes

Yeong Sang Jung ,  남효경 ,  Hyun Ah Jeong 외 5명

Annals of Pediatirc Endocrinology & Metabolism

2015 .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

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

Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy

Ali Me ,  t Koce ,  Mehmet Yasin Teke 외 3명

Journal of Retina

2019 .01

A novel mutation in the DNMT1 gene in a patient presenting with pure cerebellar ataxia

Algahtani ,  Hussein ,  Shi 외 2명

Journal of genetic medicine

2017 .01

Mutation Cases in the Korean Population using 23 Autosomal STR Loci Analysis

Jeongyong Kim ,  Hyojeong Kim ,  Ja Hyun Lee 외 2명

대한의생명과학회지

2021 .06

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

제1형 신경섬유종증 가족에서 발견된 NF1 유전자 변이와 임상양상

정연정

대한내과학회지

2016 .01

전이암 환자의 예후 판단 인자로서 생체전기 임피던스 분석을 이용한 위상각의 역할

윤성수 ,  윤성우 ,  류한성 외 2명

대한한방내과학회지

2018 .01

De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea

Han ,  Kyoung Hee ,  Pa 외 4명

Clinical and Experimental Pediatrics

2019 .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

mHealth의 활용을 통한 만성질환 예방 및 관리 가능성 모색

이지애 ,  윤원정 ,  조성일 외 1명

보건학논집

2016 .03

Successful Treatment of Tolosa-Hunt Syndrome after a Single Infusion of Infliximab

Ta ,  ek Halabi ,  Raja Sawaya

Journal of Clinical Neurology

2018 .01

Incidence, Clinical Features, and Prognostic Impact of CALR Exon 9 Mutations in Essential Thrombocythemia and Primary Myelofibrosis: An Experience of a Single Tertiary Hospital in Korea

박상혁 ,  장철훈 ,  김형회 외 9명

Annals of Laboratory Medicine

2015 .01

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases

김민석 ,  주광식 ,  성문우 외 4명

Journal of Korean Medical Science

2019 .01

Genetic diagnosis of autosomal dominant polycystic kidney disease: linkage analysis versus direct mutation analysis

Kyu-BeckLee

Kidney Research and Clinical Practice

2016 .01

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

Fatemeh Azadegan-Dehko ,  di ,  Tayyebe Bah 외 16명

Journal of Audiology & Otology

2019 .01

Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy

Byung Woo Choi ,  Seongho Pa ,  k 외 1명

Dementia and Neurocognitive Disorders(대한치매학회지)

2016 .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

Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

Hao Wang

Clinical Hypertension

2020 .01