Saeam Shin
0000-0003-1501-3923
49 papers found
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Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy
Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis
Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A)
Isolated Sphenoid Sinusitis with Nontypeable Haemophilus influenzae Bacteremia in a Healthy Child
Frequency and Clinical Characteristics of Unselected Korean Gastric Cancer Patients with a Germline CDH1 V832M Mutation
A novel approach for tuberculosis diagnosis using exosomal DNA and droplet digital PCR
Selecting short length nucleic acids localized in exosomes improves plasma EGFR mutation detection in NSCLC patients
Clinical Evaluation of Massively Parallel RNA Sequencing for Detecting Recurrent Gene Fusions in Hematologic Malignancies
A Comparative Study for Detection of EGFR Mutations in Plasma Cell-Free DNA in Korean Clinical Diagnostic Laboratories
A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization
Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing
Identification of cell morphology parameters from automatic hematology analyzers to predict the peripheral blood CD34-positive cell count after mobilization
Assessment of real-time PCR method for detection of EGFR mutation using both supernatant and cell pellet of malignant pleural effusion samples from non-small-cell lung cancer patients
Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants
t(12;17)(p13;q12)/TAF15-ZNF384 Rearrangement in Acute Lymphoblastic Leukemia
Chronic Myeloid Leukemia With Rare Variant b2a3 (e13a3) BCR-ABL1 Fusion
An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis
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