Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability
- Journal Name, Publication year
- Lab Med, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37467311/
- Paper Title
- Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
- Journal Name, Publication year
- Genes, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37393059/
- Paper Title
- Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
- Journal Name, Publication year
- Clinical Genetics, 2023
- 링크
- https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.14382
- Paper Title
- CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS
- Journal Name, Publication year
- The International Journal of Romanian Society of Endocrinolog, 2023
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10162813/
- Paper Title
- Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
- Journal Name, Publication year
- Frontiel genetics, 2023
- 링크
- https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1168307/full
