Showing results 1 to 13 of 13
|Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients
|Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis
|Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
|Effect of rivastigmine or memantine add-on therapy is affected by butyrylcholinesterase genotype in patients with probable Alzheimer's disease.
|Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation
|Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations
|박동하, 윤수한, 정선용
|PAPSS2 mutations cause autosomal recessive brachyolmia
|Position statements on genetic test for peritoneal, ovarian, and fallopian tubal cancers: Korean Society of Gynecologic Oncology (KSGO)
|Practice Patterns of Hereditary Ovarian Cancer Management in Korea
|Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
|Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach
|The first successful prenatal diagnosis on a Korean family with citrullinemia.
|The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.