Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
- Journal Name, Publication year
- J Clin Endocrinol Metab, 2024
- 링크
- https://academic.oup.com/jcem/advance-article-abstract/doi/10.1210/clinem/dgae320/7667221?redirectedFrom=fulltext&login=false
- Paper Title
- Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
- Journal Name, Publication year
- J Clin Immunol, 2024
- 링크
- https://link.springer.com/article/10.1007/s10875-024-01724-7
- Paper Title
- How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
- Journal Name, Publication year
- Eur J Med Genet, 2024
- 링크
- https://www.sciencedirect.com/science/article/pii/S1769721224000363?via%3Dihub
- Paper Title
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing
- Journal Name, Publication year
- Neurology genetics, 2024
- 링크
- https://www.neurology.org/doi/10.1212/NXG.0000000000200133
- Paper Title
- Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
- Journal Name, Publication year
- Mol Genet Genomic Med, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2430
