논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans
- Journal Name, Publication year
- Eur J Hum Genet, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36797467/
- Paper Title
- KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
- Journal Name, Publication year
- Molecular Genetics & Genomic Medicine, 2022
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36564961/
- Paper Title
- Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease
- Journal Name, Publication year
- Congenital heart disease, 2022
- 링크
- https://www.techscience.com/chd/v17n6/50102
- Paper Title
- Congenital Stationary Night Blindness: Clinical and Genetic Features
- Journal Name, Publication year
- Int J Mol Sci, 2022
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9740538/
- Paper Title
- Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
- Journal Name, Publication year
- AJHG, 2022
- 링크
- https://www.cell.com/ajhg/fulltext/S0002-9297(22)00360-3
