Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variant
- Journal Name, Publication year
- J Child Neurol., 2025
- 링크
- https://journals.sagepub.com/doi/10.1177/08830738251404115?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
- Paper Title
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2
- Journal Name, Publication year
- Int. J. Mol. Sci., 2025
- 링크
- https://www.mdpi.com/1422-0067/26/24/12039
- Paper Title
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families
- Journal Name, Publication year
- npj genomic medicine, 2025
- 링크
- https://www.nature.com/articles/s41525-025-00538-9
- Paper Title
- The importance and clinical utility of reanalysis of exome and genome sequencing data
- Journal Name, Publication year
- Kidney Res Clin Pract., 2025
- 링크
- https://krcp-ksn.org/journal/view.php?doi=10.23876/j.krcp.25.210
- Paper Title
- NAXD Encephalopathy Mimicking Neuroinflammatory Disease
- Journal Name, Publication year
- Am J Med Genet A., 2025
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ajmga.70013