Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology

Elif Funda Sene ,  Halit Canatan ,  Yusuf Ozkul

PSYCHIATRY INVESTIGATION

2016 .01

A priori and null in autism genetics : Lesson from 7,600 whole genome and 35,000 exome sequencing gata

Joon An

대한소아청소년정신의학회 학술대회논문집

2018 .11

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

Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

전가원 ,  이미나 ,  M.D. 외 5명

Annals of Laboratory Medicine

2014 .01

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

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

Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders

이종화 ,  오인경 ,  윤미진 외 1명

Laboratory Medicine Online

2017 .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

엑솜시퀀싱을 통해 생후 7개월에 진단된 헌터증후군

송아리 ,  이진성 ,  임민지 외 3명

대한유전성대사질환학회지

2018 .01

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

Nadia La ,  oussi ,  Olfa Messaoud 외 14명

Annals of Dermatology

2017 .01

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Min Ju Lee ,  Chae Ri Suh ,  Jeong Hee Shin 외 5명

Pediatric Gastroenterology, Hepatology & Nutrition

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

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

후방 도달법

김희중

Hip and Pelvis

2003 .01

Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing

고재상 ,  윤진숙 ,  이현주 외 1명

Yonsei Medical Journal

2017 .01

Genomics-driven treatments of patients with idiopathic immune features

Mu ,  im Choi

한국실험동물학회 학술발표대회 논문집

2017 .02

Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing

손영배 ,  장주영 ,  이다근 외 1명

대한유전성대사질환학회지

2017 .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

국내에서 분리된 돼지 써코바이러스 2형의 유전자 염기서열 분석 및 발현

김경미 ,  박효선 ,  김재훈 외 1명

JOURNAL OF BACTERIOLOGY AND VIROLOGY

2003 .06