Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders
- Journal Name, Publication year
- iOVS, 2022
- 링크
- https://iovs.arvojournals.org/article.aspx?articleid=2778802
- Paper Title
- Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-Mendelian Fashion
- Journal Name, Publication year
- Clinical & Experimental Otorhinolaryngology, 2022
- 링크
- https://www.e-ceo.org/upload/pdf/ceo-2021-01935.pdf
- Paper Title
- Whole exome sequencing confirms molecular diagnostics of three pakhtun families with autosomal recessive epidermolysis bullosa
- Journal Name, Publication year
- Frontiers in Pediatrics, 2021
- 링크
- https://pubmed.ncbi.nlm.nih.gov/34414147/
- Paper Title
- Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
- Journal Name, Publication year
- The journal of genetic medicine, 2021
- 링크
- https://www.e-kjgm.org/journal/view.html?uid=335&&vmd=Full
- Paper Title
- Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation
- Journal Name, Publication year
- Childhood kidney diseases, 2021
- 링크
- https://chikd.org/journal/view.php?id=10.3339/jkspn.2021.25.2.128
