Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
- Journal Name, Publication year
- Hum Genet, 2025
- 링크
- http://127.0.0.1:10219/web_control_warning.html?connected=https://link.springer.com/article/10.1007/s00439-025-02726-0&URLHASH=815b6fea16e3558f3f429972ab2e6975102258b481f33f0a0db1eb837d265e1b&PID=1535&AUTH=b1c4fb9c9bc56d064b869ce8b80c1dc8b878844991286a8ed7a8882211c17998
- Paper Title
- Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
- Journal Name, Publication year
- Frotiers in Pediatrics, 2025
- 링크
- https://pmc.ncbi.nlm.nih.gov/articles/PMC11794251/
- Paper Title
- Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders
- Journal Name, Publication year
- npj genomic medicine, 2025
- 링크
- https://www.nature.com/articles/s41525-024-00455-3
- Paper Title
- Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants
- Journal Name, Publication year
- Pediatric Pulmonology, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ppul.26937
- Paper Title
- ELMO2-related Intraosseous Vascular Malformation: Report of four new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches
- Journal Name, Publication year
- EUROPEAN JOURNAL OF HUMAN GENETICS, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39627357/
