3billion

Publications

Check out research papers published by 3billion and collaborators.

Paper Title
Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
Journal Name, Publication year
BMC Med Genomics., 2023
링크
https://pubmed.ncbi.nlm.nih.gov/37821930/
Paper Title
Genetic heterogeneity of cardiomyopathy and its correlation with patient care
Journal Name, Publication year
BMC Med Genomics., 2023
링크
https://pubmed.ncbi.nlm.nih.gov/37821930/
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/
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