논문
쓰리빌리언의 연구 논문을 확인해보세요.
- Paper Title
- Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
- Journal Name, Publication year
- Genes (Basel), 2023
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858993/
- Paper Title
- Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
- Journal Name, Publication year
- BMC Ophthalmology, 2022
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670441/
- Paper Title
- CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma
- Journal Name, Publication year
- American Journal of Ophthalmology Case Reports, 2022
- 링크
- https://www.sciencedirect.com/science/article/pii/S2451993622000986?via%3Dihub
- 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
