Publications
Check out research papers published by 3billion and collaborators.
- 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
- Paper Title
- Evaluation of users’ level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases
- Journal Name, Publication year
- Medicine (Baltimore), 2022
- 링크
- https://pubmed.ncbi.nlm.nih.gov/35838999/
- Paper Title
- High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
- Journal Name, Publication year
- Am J Med Genet A, 2022
- 링크
- https://pubmed.ncbi.nlm.nih.gov/35792504/
- Paper Title
- Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: A case report and review
- Journal Name, Publication year
- Ann Pediatr Endocrinol Metab, 2022
- 링크
- https://e-apem.org/journal/view.php?doi=10.6065/apem.2244052.026
- Paper Title
- Phenotypic and Genetic Complexity in Pediatric Movement Disorders
- Journal Name, Publication year
- Frontiers in genetics, 2022
- 링크
- https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.829558/full
