논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing
- Journal Name, Publication year
- Sci Rep, 2024
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11193775/
- Paper Title
- Knockout mice with pituitary malformations help identify human cases of hypopituitarism
- Journal Name, Publication year
- Genome Med, 2024
- 링크
- https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-024-01347-y
- 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
