논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
- Journal Name, Publication year
- Clinical Genetics, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37904158/
- Paper Title
- A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems
- Journal Name, Publication year
- Mol Genet Genomic Med, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37877434/
- Paper Title
- Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
- Journal Name, Publication year
- BMC Med Genomics., 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37821930/
- Paper Title
- Genetic heterogeneity of cardiomyopathy and its correlation with patient care
- Journal Name, Publication year
- BMC Med Genomics., 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37821930/
- Paper Title
- Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea
- Journal Name, Publication year
- Ann Hum Genet, 2023
- 링크
- https://onlinelibrary.wiley.com/doi/10.1111/ahg.12530
