Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report
- Journal Name, Publication year
- J Pak Med Assoc., 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/38219185/
- Paper Title
- Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
- Journal Name, Publication year
- Mol Genet Genomic Med, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2330
- Paper Title
- Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures
- Journal Name, Publication year
- Global Pediatrics, 2023
- 링크
- https://www.sciencedirect.com/science/article/pii/S2667009723000908?via%3Dihub
- Paper Title
- Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
- Journal Name, Publication year
- Am J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/38118446/
- Paper Title
- Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
- Journal Name, Publication year
- Gene, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37956964/
