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Showing results 1 to 14 of 14

Pub YearTitleAJOU Author(s)
2012Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients김구상
2024Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases정승아
2019Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis손영배, 장주영
2015Disease-specific growth charts for Korean infants with Prader-Willi syndrome.손영배
2015Effect of rivastigmine or memantine add-on therapy is affected by butyrylcholinesterase genotype in patients with probable Alzheimer's disease.문소영
2023Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation황교승
2012Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations박동하, 윤수한, 정선용
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2016Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO)장석준
2017Practice Patterns of Hereditary Ovarian Cancer Management in Korea장석준
2011Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.김옥화
2020Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach장정훈, 정연훈
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2013The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.김구상, 정용식
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