Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing
- Journal Name, Publication year
- Neurology genetics, 2024
- 링크
- https://www.neurology.org/doi/10.1212/NXG.0000000000200133
- Paper Title
- Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
- Journal Name, Publication year
- Mol Genet Genomic Med, 2024
- 링크
- https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2430
- 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/
