논문
쓰리빌리언의 연구 논문을 확인해보세요.
- 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
- Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia
- Journal Name, Publication year
- Int J Mol Sci, 2023
- 링크
- https://www.mdpi.com/1422-0067/26/16/7985
- Paper Title
- Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center
- Journal Name, Publication year
- Mol Genet Metab Rep ., 2023
- 링크
- https://linkinghub.elsevier.com/retrieve/pii/S2214-4269(25)00053-9
- 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