Multicenter Surveillance of Cystic Fibrosis in Korean Children

Kim Hyung Young ,  Hong Soo-Jong ,  Ahn Kangmo 외 7명

Allergy, Asthma & Immunology Research

2022 .09

PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis

이경아

Annals of Laboratory Medicine

2016 .01

The cis-AB01 Allele Originated From the A105 Allele, and not From the A102 Allele

양성진 ,  양동욱 ,  원은정 외 2명

Annals of Laboratory Medicine

2015 .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

Comparison of Risk Allele Frequencies of Psoriasis-Associated Single-Nucleotide Polymorphisms in Different Population Groups

이동훈 ,  구태한 ,  박지호 외 1명

Annals of Dermatology

2023 .02

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

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .01

The Association between the Apolipoprotein E Gene Polymorphism and All-cause Mortality in the Korean Population

최창균 ,  권순석 ,  이영훈 외 6명

Journal of Korean Medical Science

2019 .01

반복적인 호흡기 증상을 주소로 내원한 13세 여아에서 진단된 낭성섬유증 1예

정문희 ,  정성수 ,  김형영

Allergy Asthma & Respiratory Diseases

2020 .01

Differentiated Thyroid Cancer in Asians

김보현

Endocrinology and Metabolism

2016 .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

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases

고정민 ,  박경선 ,  박경선 외 7명

Yonsei Medical Journal

2018 .01

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

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01

한국인에서 O 형 대립유전자의 분자유전학 및 혈청학적 분석

이자영 ,  송새암 ,  오승환

대한수혈학회지

2019 .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

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .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

Erratum to: Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

정해용 ,  기창석 ,  고원정 외 8명

Annals of Laboratory Medicine

2015 .01

Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea

성원재 ,  김영은 ,  김승현

Journal of Clinical Neurology

2021 .01

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01