신생아 후기에 증상을 발현하여 비교적 양호한 예후를 보이는 Carbamoyl Phosphate Synthetase 1 Deficiency 1례

박에스더 ,  김민선 ,  송아리 외 5명

대한유전성대사질환학회지

2018 .01

A Fatal Case of Neonatal Onset Carbamoyl Phosphate Synthetase I Deficiency with Homozygous CPS1 Mutation

윤정하 ,  신승한 ,  고정민 외 2명

대한유전성대사질환학회지

2018 .01

신생아기에 새로운 CPS1 유전자 돌연변이가 확인되고, 간세포이식 시행 받은 Carbamoyl phosphatase synthetase 1 deficiency 1례

이지선 ,  양아람 ,  김진섭 외 5명

대한유전성대사질환학회지

2017 .01

Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

최리화 ,  박형두 ,  양미나 외 6명

Annals of Laboratory Medicine

2017 .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

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

Molecular and Clinicopathological Features of Gastrointestinal Stromal Tumors in Vietnamese Patients

Quoc Dat Ngo ,  Quoc Thang Pham ,  Dang Anh Thu Phan 외 4명

Journal of Pathology and Translational Medicine

2019 .01

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

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

The brand-new compound CPS219 exhibits anti-oxidant and estrogen-like actions

Kyung-Min Jeong ,  Yu-Jin Choi ,  Seung-Hwan Kim 외 1명

셀메드

2023 .02

Genetic Profiles of Korean Patients With Glucose-6-Phosphate Dehydrogenase Deficiency

이재웅 ,  박준홍 ,  최하영 외 9명

Annals of Laboratory Medicine

2017 .01

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

Hao Wang

Clinical Hypertension

2020 .01

Correlation between EGFR Gene Mutations and Lung Cancer: a Hospital-Based Study

Kavitha ,  Matam ,  I 외 32명

Asian Pacific journal of cancer prevention : APJCP

2015 .01

중풍 입원 환자 관리를 위한 임상경로 개발

김미경 ,  한창호

대한한의학회지

2021 .06

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

냉동혈소판의 해외 사용 현황

윤경원 ,  박서진

대한수혈학회지

2024 .04

Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

Kim ,  Hye-ji ,  Seo 외 15명

Journal of genetic medicine

2017 .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

Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Muhammad Usman Rashid ,  Faiz Ali Khan ,  Noo 외 3명

Cancer Research and Treatment

2019 .01

Clinical Outcomes of EGFR Exon 20 Insertion Mutations in Advanced Non-small Cell Lung Cancer in Korea

변성규 ,  김유진 ,  임성원 외 9명

Cancer Research and Treatment

2019 .01

A Neonate with a PIGA c.1234C>T Mutation as a Novel Cause of Neonatal Early Infantile Epileptic Encephalopathy

황재균 ,  차태현 ,  장자현 외 4명

Perinatology

2016 .01