Publications
Check out research papers published by 3billion and collaborators.
- Paper Title
- Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea
- Journal Name, Publication year
- Ann Hum Genet, 2023
- 링크
- https://onlinelibrary.wiley.com/doi/10.1111/ahg.12530
- Paper Title
- Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
- Journal Name, Publication year
- BMC Musculoskelet Disord, 2023
- 링크
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10503101/
- Paper Title
- A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review
- Journal Name, Publication year
- Mol Genet Genomic Med, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37496384/
- Paper Title
- Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability
- Journal Name, Publication year
- Lab Med, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37467311/
- Paper Title
- Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy
- Journal Name, Publication year
- Genes, 2023
- 링크
- https://pubmed.ncbi.nlm.nih.gov/37393059/
