Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report
- Journal Name, Publication year
- Annals of clinical &laboratory science, 2022
- 링크
- https://pubmed.ncbi.nlm.nih.gov/35777792/
- Paper Title
- Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon
- Journal Name, Publication year
- Frontiel genetics, 2022
- 링크
- https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.864228/full
- Paper Title
- The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6
- Journal Name, Publication year
- Journal of Clinical neurology, 2022
- 링크
- https://thejcn.com/DOIx.php?id=10.3988/jcn.2022.18.2.233
- 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/
