A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

이유경 ,  박명희 ,  문정일 외 3명

Korean Journal of Ophthalmology

2015 .01

Upregulation of PITX2 Promotes Letrozole Resistance Via Transcriptional Activation of IFITM1 Signaling in Breast Cancer Cells

Ying-ying Xu ,  Hai- ,  u Yu 외 9명

Cancer Research and Treatment

2019 .01

아프리카산 발톱개구리의 치아형성띠 표지인자 pitx2 의 발현

고병석 ,  홍지수 ,  박병건 외 1명

대한구강해부학회지

2019 .01

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome

이승준 ,  김은진 ,  조성임 외 8명

Annals of Laboratory Medicine

2018 .01

Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A

서수현 ,  김소연 ,  조성임 외 10명

Annals of Laboratory Medicine

2018 .01

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .01

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .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

Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene

박형준 ,  김승민 ,  이정환 외 6명

Journal of Clinical Neurology

2017 .01

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines

Kim Seo Wan ,  Kim Boyeon ,  Kim Yoonjung 외 1명

Annals of Laboratory Medicine

2024 .05

Status of the SARS-CoV-2 Mutant Virus (Delta, Omicron) outbreak in Chungcheongnamdo, Korea in Early 2022

KyungA Yun ,  Ji Hee Kim ,  Na Hee Kwon 외 3명

JOURNAL OF BACTERIOLOGY AND VIROLOGY

2022 .12

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01

SARS-CoV-2 Variants of Concern

최준용 ,  Davey M. Smith

Yonsei Medical Journal

2021 .11

Different Patterns of Risk Reducing Decisions in Affected or Unaffected BRCA Pathogenic Variant Carriers

이은경 ,  강혁조 ,  임명철 외 11명

Cancer Research and Treatment

2019 .01

Concurrent SHORT syndrome and 3q duplication syndrome

Boaz ,  Alexande ,  M. 외 8명

Journal of genetic medicine

2019 .01

Clinical Presentation with High Penetrance in a Korean Family with Pulmonary Arterial Hypertension Associated with a BMPR2 Intron 3 Splice Site Pathogenic Variant

김미정 ,  이승옥 ,  제갈동욱 외 4명

Laboratory Medicine Online

2018 .01

Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians

김종원

Allergy, Asthma & Immunology Research

2022 .09

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

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

Increase in Anti-Gal IgM Level is Associated With Early Graft Failure in Intraportal Porcine Islet Xenotransplantation

이한율나리 ,  신준섭 ,  김정민 외 5명

Annals of Laboratory Medicine

2015 .01