논문
쓰리빌리언의 연구 논문을 확인해보세요.
- 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/
- Paper Title
- Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
- Journal Name, Publication year
- Am J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37963460/
- Paper Title
- Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene
- Journal Name, Publication year
- Clinical Genetics, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37904158/
