Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in Korea
- Journal Name, Publication year
- Ann Pediatr Endocrinol Metab, 2022
- 링크
- https://e-apem.org/journal/view.php?doi=10.6065/apem.2142116.058
- 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
