A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure

Yeo Yoomi ,  Pa ,  k Jong Eun 외 1명

Annals of Laboratory Medicine

2021 .11

Randomized Crossover-Controlled Evaluation of Simultaneous Bilateral Transcutaneous Electrostimulation of the Posterior Tibial Nerve During Urodynamic Studies in Patients With Lower Urinary Tract Symptoms

Flo ,  ian Gi ,  tne 외 12명

International Neurourology Journal

2021 .12

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

Causes of Transfer of Neonates (Born after ≥34 Weeks of Gestation) to the Neonatal Intensive Care Unit Owing to Respiratory Distress and their Clinical Features

Yu Jin Jung

Neonatal 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

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

이찬주 ,  엄지윤 ,  엄지윤 외 6명

Yonsei Medical Journal

2018 .01

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

김종원

Allergy, Asthma & Immunology Research

2022 .09

Novel Pathogenic Missense NF1-Variant Associated With Cognitive Impairment

A ,  shad Faheem ,  P 외 11명

Dementia and Neurocognitive Disorders(대한치매학회지)

2024 .01

Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

Mi-Ae Jang

Annals of Laboratory Medicine

2019 .01

한국인 신경섬유종증 1형 환자에서 관찰된 NF1 유전자 변이 분포

강현혜 ,  이재웅 ,  박준홍 외 4명

Laboratory Medicine Online

2021 .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

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

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

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

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

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

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

Report of the Korean Association of External Quality Assessment Service on Next-Generation Sequencing Analysis for Somatic Variants (2018–2020)

Hongkyung Kim ,  Dongju Won ,  Saeam Shin 외 2명

Journal of Laboratory Medicine And Quality Assurance

2021 .01

TP53 variants in p53 signatures and the clonality of STICs in RRSO samples

Tomoko Akahane ,  Kenta Masuda ,  Aki 외 25명

Journal of Gynecologic Oncology

2022 .07

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

이경아

Annals of Laboratory Medicine

2016 .01