Publications
Check out research papers published by 3billion and collaborators.
- 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
- A novel heterozygous truncating variant in the AGO1 gene in an Iranian family with schizophrenia as an unreported symptom
- Journal Name, Publication year
- Ann Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37589173/
- Paper Title
- Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
- Journal Name, Publication year
- frontiers in genetics, 2023
- 링크
- https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1185065/full
- Paper Title
- Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
- Journal Name, Publication year
- Genes (Basel), 2023
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858993/
- 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
