Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing

장미애 ,  김진경 ,  기창석 외 1명

Annals of Laboratory Medicine

2015 .01

Novel Pathogenic Variant in PIEZO2 in a Korean Patient with Distal Arthrogryposis

Kim Taewon ,  Lee Seung Ah ,  Choi Won Ah 외 4명

대한근전도 전기진단의학회지

2023 .04

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

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

Choi ,  Eun Mi ,  Lee 외 15명

Clinical and Experimental Pediatrics

2018 .01

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing

김지섭 ,  조성윤 ,  양아람 외 4명

Annals of Pediatirc Endocrinology & Metabolism

2017 .01

Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience

Lee Hyeonju ,  Min Jeesu ,  Ahn Yo Han 외 1명

Childhood Kidney Diseases

2022 .06

Liver resection in selective hepatocellular carcinoma with Vp3 or Vp4 portal vein tumor thrombosis improves prognosis

임마누엘 ,  김종만 ,  유진수 외 2명

Journal of Liver Cancer

2024 .03

Recent Advances in the Clinical Application of Next-Generation Sequencing

Chang-Seok Ki

Pediatric Gastroenterology, Hepatology & Nutrition

2021 .01

Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

So Jeong Kim ,  Jeong Eun Lee ,  Hyun Duck Kwak 외 5명

Childhood Kidney Diseases

2021 .12

Intrawound Vancomycin Powder in Primary Total Hip Arthroplasty Increases Rate of Sterile Wound Complications

B ,  ian L. Dial ,  Alexande 외 4명

Hip and Pelvis

2018 .01

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

Gill ,  Inkyu ,  Kim 외 7명

Journal of genetic medicine

2018 .01

Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea

장미애 ,  이태현 ,  이준남 외 2명

Annals of Laboratory Medicine

2015 .01

Exome sequencing in a breast cancer family without BRCA mutation

Noh ,  Jae Myoung ,  Kim 외 10명

Radiation oncology journal : ROJ

2015 .01

Thrombocythemia 1 With THPO Variant (c.13+1G>A) Diagnosed Using Targeted Exome Sequencing: First Case in Korea

Jung Nani ,  Kim Do Hoon ,  Ha Jung Sook 외 1명

Annals of Laboratory Medicine

2020 .01

Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

김용록 ,  박종범 ,  이영진 외 3명

Annals of Rehabilitation Medicine

2017 .06

Kabuki syndrome: clinical and molecular characteristics

Cheon ,  Chong-Kun ,  Ko 외 1명

Clinical and Experimental Pediatrics

2015 .01

Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis

김선영 ,  이영학 ,  강예은 외 8명

Endocrinology and Metabolism

2018 .01

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

Vik ,  am Venkappayya Holla ,  P 외 2명

Journal Of Movement Disorders

2022 .05

Corrigendum: Correction of Table. Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing

김상욱 ,  조은희 ,  민재웅 외 1명

Endocrinology and Metabolism

2021 .01

Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn’s Disease?

오석희 ,  송규영 ,  백지원 외 11명

Gut and Liver

2015 .01