Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families
- Journal Name, Publication year
- Am J Med Genet A, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63716
- Paper Title
- Clinical and molecular characteristics of Korean patients with Kabuki syndrome
- Journal Name, Publication year
- J Hum Genet, 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/38824232/
- 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