Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Clinical and Neuroradiological spectrum of Biallelic Variants in NOTCH3
- Journal Name, Publication year
- eBioMedicine, 2020
- 링크
- https://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(24)00333-5/fulltext
- Paper Title
- A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework
- Journal Name, Publication year
- BioRxiv, 2020
- 링크
- https://www.biorxiv.org/content/10.1101/2020.07.22.215426v1.abstract
- Paper Title
- Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic setting
- Journal Name, Publication year
- BioRxiv, 2020
- 링크
- https://www.biorxiv.org/content/10.1101/2020.12.08.416792v1
- Paper Title
- Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia
- Journal Name, Publication year
- Journal of genetic medicine, 2020
- 링크
- https://www.e-kjgm.org/journal/view.html?doi=10.5734/JGM.2020.17.2.92
- Paper Title
- An A627V activating mutation in the thyroid stimulating hormone receptor gene in a patient with familial non-autoimmune hyperthyroidism
- Journal Name, Publication year
- Annals of Pediatric Endocrinology & Metabolism, 2020
- 링크
- https://e-apem.org/journal/view.php?number=845
