Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Ultra-rare renal diseases diagnosed with whole exome sequencing: Utility in diagnosis and management
- Journal Name, Publication year
- BMC medical genomics, 2021
- 링크
- https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-021-01026-6
- Paper Title
- Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort
- Journal Name, Publication year
- Genes, 2021
- 링크
- https://www.mdpi.com/2073-4425/12/5/675
- Paper Title
- High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy
- Journal Name, Publication year
- congenital heart disease, 2021
- 링크
- https://www.techscience.com/chd/v16n4/42073
- Paper Title
- Empty Sella Syndrome Associated with Growth Hormone Deficiency: The First Case Report of Weiss-Kruszka Syndrome.
- Journal Name, Publication year
- JKMS, 2021
- 링크
- https://jkms.org/DOIx.php?id=10.3346/jkms.2021.36.e133
- Paper Title
- Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic setting
- Journal Name, Publication year
- BioRxiv, 2020
- 링크
- https://www.biorxiv.org/content/10.1101/2020.12.08.416792v1
