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
- Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene
- Journal Name, Publication year
- Diagnostics, 2020
- 링크
- https://www.mdpi.com/2075-4418/10/10/821
- Paper Title
- A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features
- Journal Name, Publication year
- Annals of Clinical & Laboratory Science, 2020
- 링크
- http://www.annclinlabsci.org/content/50/5/687.abstract
- Paper Title
- The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 gene mutations in two siblings confirmed by clinical and molecular investigation
- Journal Name, Publication year
- Brain and Development, 2020
- 링크
- https://www.brainanddevelopment.com/article/S0387-7604(20)30257-6/abstract
