Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

김경원 ,  오지영 ,  이진성 외 6명

Yonsei Medical Journal

2024 .01

Mitochondrial Retinopathy by MT-ATP6 Variant Revealed by Whole-Genome Sequencing: A Case Report

Jaehwan Choi ,  Sungsoon Hwang ,  Ja-Hyun Jang 외 1명

Korean Journal of Ophthalmology

2024 .08

Neonates and Pediatric Patients

Soo-Hong Kim

대한외과학회 학술대회 초록집

2018 .11

Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing

이남용 ,  허희재 ,  조은혜 외 5명

Yonsei Medical Journal

2021 .01

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

Hongkyung Kim ,  Dongju Won ,  Saeam Shin 외 2명

Journal of Laboratory Medicine And Quality Assurance

2021 .01

Comparison of Neonates and Non-neonates in Enterostomyrelated Complication and Mortality : A Retrospective Study

Joohyun SIM ,  Jeong HONG

대한외과학회 학술대회 초록집

2019 .10

Risk factors for respiratory distress syndrome in full-term neonates

Kim ,  Jin Hyeon ,  Lee 외 3명

영남의대학술지

2018 .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

Risk factors for respiratory distress syndrome in full-term neonates

김진현 ,  이상민 ,  이영환

Journal of Yeungnam Medical Science

2018 .01

신생아 위천공: 미숙아와 만삭아의 차이 비교

김수홍 ,  박희경 ,  조용훈 외 3명

Neonatal medicine

2015 .01

사상의학적(四象醫學的)으로 접근한 노인성 입얼굴 이상운동증 환자 치험 2례

박정환 ,  김윤하 ,  고가연 외 1명

JSCM : Journal of Sasang constitutional medicine

2015 .01

신생아의 저산소성 허혈성 뇌병증과 혈중 비타민 D 농도의 연관성: 체계적 문헌고찰 및 메타분석

장세원 ,  이소연 ,  안숙희

병원약사회지

2021 .11

Recent Advances in the Clinical Application of Next-Generation Sequencing

Chang-Seok Ki

Pediatric Gastroenterology, Hepatology & Nutrition

2021 .01

신생아 약동학과 약물요법

조혜정

대한소아응급의학회지

2017 .06

Targeted Next-Generation Sequencing of Plasma Cell-Free DNA in Korean Patients with Hepatocellular Carcinoma

Chae Hyojin ,  Sung Pil Soo ,  Choi Hayoung 외 5명

Annals of Laboratory Medicine

2021 .01

Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing

Kim A ,  am ,  Kim Hyun-Ki 외 7명

Annals of Laboratory Medicine

2020 .01

Comparative Analysis of the Molecular Characteristics of Group B Streptococcus Isolates Collected from Pregnant Korean Women Using Whole-genome Sequencing

Lee Yangsoon ,  Bae Hye Gyung ,  Won Dongju 외 5명

Annals of Laboratory Medicine

2023 .03

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

Analysis of DNAs in normal and tumor tissues of hepatocellular carcinoma using whole genome sequencing

Min-Su PARK ,  Bumsoo KIM

Annals of Hepato-Biliary-Pancreatic Surgery

2022 .12