Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Whole exome sequencing confirms molecular diagnostics of three pakhtun families with autosomal recessive epidermolysis bullosa
- Journal Name, Publication year
- Frontiers in Pediatrics, 2021
- 링크
- https://pubmed.ncbi.nlm.nih.gov/34414147/
- Paper Title
- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
- Journal Name, Publication year
- The journal of genetic medicine, 2021
- 링크
- https://www.e-kjgm.org/journal/view.html?uid=335&&vmd=Full
- Paper Title
- Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
- Journal Name, Publication year
- Childhood kidney diseases, 2021
- 링크
- https://chikd.org/journal/view.php?id=10.3339/jkspn.2021.25.2.128
- Paper Title
- A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature
- Journal Name, Publication year
- Ophthalmic genetics, 2021
- 링크
- https://www.tandfonline.com/doi/full/10.1080/13816810.2021.2010773
- Paper Title
- Hypomagnesemia and seizures in a patient with an SOS1 mutation
- Journal Name, Publication year
- Seizure, 2021
- 링크
- https://www.seizure-journal.com/article/S1059-1311(21)00317-4/fulltext