Thwayba A. Mahmoud

In silico analysis of CDC73 gene revealing 11 novel SNPs associated with Jaw Tumor Syndrome

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

Comprehensive bioinformatics analysis of L1CAM gene revealed Novel Pathological mutations associated with L1 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.

In silico analysis of IDH3A gene revealed Novel mutations associated with Retinitis Pigmentosa

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

In Silico Analysis and Modeling of Novel Pathogenic Single Nucleotide Polymorphisms (SNPs) in Human CD40LG Gene

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

In Silico Genetics: Identification of pathogenic nsSNPs in human STAT3 gene associated with Job's 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.