| 2020-02 |
Copy number variations and multiallelic variants in Korean patients with leber congenital amaurosis |
MOLECULAR VISION
|
| 2020-02 |
Detection of recurrent, rare, and novel gene fusions in patients with acute leukemia using next-generation sequencing approaches |
HEMATOLOGICAL ONCOLOGY
|
| 2020-02 |
Newborn hereditary elliptocytosis confirmed by familial genetic testing |
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
|
| 2019-12 |
Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients with Infantile Nystagmus Syndrome |
JAMA OPHTHALMOLOGY
|
| 2019-12 |
Genetic and clinical features of SCN8A developmental and epileptic encephalopathy |
EPILEPSY RESEARCH
|
| 2019-10 |
Mutant Thr95Ile Transthyretin-Related Cardiac Amyloidosis With Polyneuropathy |
CIRCULATION JOURNAL
|
| 2019-10 |
Diagnostic challenge: Primary bone marrow diffuse large B-cell lymphoma mimicking systemic autoimmune disorders |
Laboratory Medicine Online
|
| 2019-09 |
Trends in contralateral prophylactic mastectomy rate according to clinicopathologic and socioeconomic status |
ANNALS OF SURGICAL TREATMENT AND RESEARCH
|