A heterozygous variant in USH1C that interferes with cadherin-related 23 and harmonin interaction causes autosomal dominant nonsyndromic hearing loss
2018LMCE 2018 & KSLM 59th Annual Meeting송주선
First Report of Familial Dysalbuminemic Hyperthyroxinemia With an ALB Variant
2017Ann Lab Med송주선
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors
2017J Hum Genet송주선
Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
2017Ann Lab Med송주선
Clinical Characteristics of Marfan Syndrome in Korea
2016Korean Circ J송주선
Identification of somatic KRAS mutation in a Korean baby with nevus sebaceus syndrome
2015Ann Lab Med송주선
Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies
2015Ann Lab Med송주선
Significance of myositis autoantibody in patients with idiopathic interstitial lung disease
2015Yonsei Med J송주선
Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
2015Yonsei Med J송주선
Absence of HLA-B*1502 and HLA-A*3101 alleles in 9 Korean patients with antiepileptic drug-induced skin rash: a preliminary study
2014Ann Lab Med송주선
A cryptic ETV6/ABL1 rearrangement represents a unique fluorescence in situ hybridization signal pattern in a patient with B acute lymphoblastic leukemia