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201.809  Articles
1 of 20.182 pages  |  10  records  |  more records»
Objectives: To assess the mutational frequencies in Mycobacterial rpoB gene using GeneXpert/MTB Rif Assay in rifampicin resistant patients during 2013-2017 at a tertiary care setting in Urban Sindh, Pakistan.Methods: This Retrospective Descriptive Cross-S... see more

 
Acute myeloid leukaemia (AML) is a clinically heterogeneous haematological cancer with increased incidence in the elderly. Genetic mutations remain important prognostic factors for treatment outcome. Our study determined the prevalence and clinical signif... see more

Objective: To identify the genetic variants in the CYP1B1 gene associated with Primary Congenital Glaucoma (PCG) and to predict its pathological effect.Method: A descriptive study was conducted in the time period of nine months (September 2021-May 2022) a... see more

Objective: Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients.Methods: We sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-... see more

BACKGROUND: Activated forms of Ras are enhanced in both breast cancer as well as the cell lines with EGFR and HER2 expression. Therefore, H-Ras could be activated in breast tumours in the absence of direct mutational activation of Ras itself and could con... 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

Background: Infertility is described as inability of a couple to conceive after a period of one year regular unprotected intercourse. About 10% - 15% of couples experience some form of infertility. Male infertility is a multifactorial disease process with... see more

Molecular characterization is currently a key step in NSCLC therapy selection. Circulating tumor cells (CTC) are excellent candidates for downstream analysis, but technology is still lagging behind. In this work, we show that the mutational status of NSCL... see more

AbstractBackground: Published information on African patients with gastrointestinal stromal tumours (GISTs) is limited.Aim: The aim of this study was to review patient and tumour characteristics, and treatment, for a cohort of African patients a... see more

1 of 20.182 pages  |  10  records  |  more records»