Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants
- Journal Name, Publication year
- Molecular Neurobiology, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/36943625/
- 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/