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21.355  Articles
1 of 2.137 pages  |  10  records  |  more records»
Current clinical genetic and genomic testing involves genome-wide evaluation of chromosomal abnormalities, copy number variants (CNVs) and gene mutations. The major challenge facing genetic laboratory directors, physicians and counselors is to distinguish... see more

Although testing is an essential part of software development, until re- cently, P system testing has been completely neglected. Mutation testing (mutation analysis) is a structural software testing method which involves modifying the pro- gram in small w... see more

BACKGROUND Retinoblastoma (RB) is an inherited disorder caused by the RB1 gene mutation in retinal cells or germline mutation. Identifying the specific mutation is crucial for prognosis, inheritance risk assessment, and treatment planning. This study aime... see more

Background & Objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been r... see more

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary... see more

Women who carry a pathogenic mutation in the breast cancer susceptibility genes BRCA1 or BRCA2 (BRCA) have markedly increased risks of developing breast and ovarian cancers during their lifetime. It has been estimated that their breast and ovarian cancer ... see more

Venous tumor thrombus is a known manifestation of Wilms’ tumors in a minority of cases but has not been previously described in association with cystic nephroma.  We report an original case of a histologically-benign cystic nephroma presenting with v... see more

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary... see more

BACKGROUND: Mutations in the NPHS2 genes are the main aetiology of early-onset and familial steroid-resistant nephrotic syndrome (SRNS). The pathogenic NPHS2 mutation together with the p.R229Q variant has been less described among Egyptian children.AIM: T... see more

1 of 2.137 pages  |  10  records  |  more records»