Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation
- Journal Name, Publication year
- Annals of Clinical & Laboratory Science, 2020
- 링크
- https://pubmed.ncbi.nlm.nih.gov/32161024/
- Paper Title
- Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14
- Journal Name, Publication year
- Journal of Human genetics, 2019
- 링크
- https://www.nature.com/articles/s10038-019-0657-6?proof=t
- Paper Title
- Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
- Journal Name, Publication year
- npj genomic medicine, -63024
- 링크
- https://www.nature.com/articles/s41525-024-00455-3
