Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex
- Journal Name, Publication year
- BMC Pediatr, 2026
- 링크
- https://link.springer.com/article/10.1186/s12887-026-07095-9
- Paper Title
- COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
- Journal Name, Publication year
- Nat Commun, 2026
- 링크
- https://www.nature.com/articles/s41467-026-73455-9
- Paper Title
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan
- Journal Name, Publication year
- Sci Rep, 2026
- 링크
- https://www.nature.com/articles/s41598-026-48515-1
- Paper Title
- A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report
- Journal Name, Publication year
- J Med Case Rep, 2026
- 링크
- https://link.springer.com/article/10.1186/s13256-026-05973-5
- Paper Title
- Spastic Quadriplegia Resulting From a Pathogenic Variant in the SPAST Gene: A First Report
- Journal Name, Publication year
- Case Rep Neurol Med, 2026
- 링크
- https://pmc.ncbi.nlm.nih.gov/articles/PMC13126082/
