Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
- Journal Name, Publication year
- Molecular Genetics and Genomics, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70060
- Paper Title
- Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
- Journal Name, Publication year
- BRAIN, 2024
- 링크
- https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae363/7927689?login=false
- Paper Title
- ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches
- Journal Name, Publication year
- European Journal of Human Genetics, 2024
- 링크
- https://www.nature.com/articles/s41431-024-01739-z
- Paper Title
- The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders
- Journal Name, Publication year
- Hormones (Athens), 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/39581956/
- Paper Title
- Secondary findings in 443 exome sequencing data
- Journal Name, Publication year
- Annals of Human Genetics, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1111/ahg.12586
