Thwayba A. Mahmoud

The paper uses in-silico tools to analyze CDC73 SNPs and identifies 11 novel variants associated with Jaw Tumor Syndrome.

The paper performs a bioinformatics analysis of L1CAM gene mutations to identify novel pathological variants associated with L1 syndrome and their potential diagnostic applications.

The paper identifies 20 novel deleterious SNPs in the IDH3A gene associated with Retinitis Pigmentosa using bioinformatics tools.

The paper identifies 8 novel SNPs in the CD40LG gene using bioinformatics tools and suggests they may be diagnostic markers for hyper-IgM syndrome.

This study identifies eleven novel pathogenic nsSNPs in the STAT3 gene associated with Job's syndrome using in silico analysis of SNPs from dbSNP/NCBI.