Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities

유대산 ,  이승주 ,  김송이 외 2명

Yonsei Medical Journal

2020 .01

Dental treatment in a patient with dystrophic epidermolysis bullosa under general anesthesia: A case report

Won-Seok Choi ,  Sang-Ho Lee ,  Nan-Young Lee 외 4명

International Journal of Disability and Oral Health

2020 .06

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex

Jiang Xin ,  Zhu Yingyu ,  Sun Huihui 외 1명

Annals of Dermatology

2021 .01

A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn

Hong Gahyun ,  Choi Minsun

Neonatal medicine

2022 .11

Refractory Epidermolysis Bullosa Acquisita with Chronic Graft-versus-Host Disease Successfully Treated with Rituximab

한주희 ,  육화정 ,  방철환 외 3명

Annals of Dermatology

2023 .05

Corrigendum: A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn

Gahyun Hong

Neonatal medicine

2023 .02

A Novel Mutation of KRT14 Gene in a Newborn with Epidermolysis Bullosa Simplex (Dowling-Meara Type): Case Report

Sung-min Lim ,  Jin Hee Kim ,  Yeseul Kim 외 7명

Perinatology

2020 .01

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

Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

Zheng Yue ,  Xu Qingfang ,  Lai Wei

Annals of Dermatology

2021 .10

출생 시 선천 피부 무형성증으로 나타난 우성 이영양성 수포성 표피박리증 신생아 1예

남궁완 ,  배성필 ,  이상균 외 2명

Perinatology

2023 .06

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

Exome sequencing in a breast cancer family without BRCA mutation

Noh ,  Jae Myoung ,  Kim 외 10명

Radiation oncology journal : ROJ

2015 .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

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

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

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

Recent Advances in the Clinical Application of Next-Generation Sequencing

Chang-Seok Ki

Pediatric Gastroenterology, Hepatology & Nutrition

2021 .01

Molecular Diagnosis of Epilepsy in Clinical Practice

이윤정 ,  안주희 ,  권순학 외 1명

대한소아신경학회지

2016 .12

Recently Identified Forms of Epidermolysis Bullosa

John A. McG ,  ath

Annals of Dermatology

2015 .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