Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
- Journal Name, Publication year
- Human genetics, 2024
- 링크
- https://link.springer.com/article/10.1007/s00439-024-02649-2
- Paper Title
- A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR
- Journal Name, Publication year
- Mol Genet Genomic Med, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2410
- Paper Title
- Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea
- Journal Name, Publication year
- Molecular vision, 2024
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006008/
- Paper Title
- Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report
- Journal Name, Publication year
- J Pak Med Assoc., 2024
- 링크
- https://pubmed.ncbi.nlm.nih.gov/38219185/
- Paper Title
- Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family
- Journal Name, Publication year
- Mol Genet Genomic Med, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2330
