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ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
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Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
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Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population
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A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
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Effect of oxidative stress-related genetic variants: “Explicating the role of reactive oxygen species influenced antioxidant gene polymorphism,” a risk stratification of type 2 diabetes mellitus-associated nephropathy: a systematic review
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The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient’s characteristics: relation to haematological parameters and patient outcome
Chronic myeloid leukaemia is characterised by genetic instability which results in additional cytogenetic aberrations that...
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Identification of the cuproptosis-related ceRNA network and risk model in acute ischemic stroke by integrated bioinformatics analysis
Acute ischemic stroke (AIS) is one of the leading contributors to death and disability in adults. And cuproptosis is a nov...
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B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves’ disease in Iraqi women
B-lymphocyte-activating factor (BAFF) is a cytokine involved in regulating the development and maturation of B lymphocyte ...
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Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region
Fetal growth restriction (FGR) is one of the main syndromes causing fetal morbidity and mortality. It was known to be asso...
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Association of ABCA1 gene with Coronary Artery Disease (CAD): an overview
This review is a summarized study on CAD, CVD, atherosclerosis, and its association with the ABCA1 gene. Only 13 clinical ...
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Association of OXTR polymorphism (rs53576) with depression: a meta-analysis
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Effect of Dioscorea extract on Bax and Bcl-2 gene expression in MCF-7 and HFF cell lines
In cancer cells, the balance between proliferation and apoptosis is disturbed. There is a direct relationship between gene...
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Association of ADAM33 gene with COPD pathophysiology: a case–control study
Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global...
Egyptian Journal Of Medical Human Genetics
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Effect of hydroxyurea on SP1, LIN28B, IGF2BP3, COL4A5, BCL2, gamma globin genes expression: an in vitro study
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Integrative bioinformatics analysis of miRNA and mRNA expression profiles identified some potential biomarkers for breast cancer
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Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis
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A meta-analysis and review on genetic mapping of type 2 diabetes mellitus in Iraq
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A glance on Immunogenetics Laboratory: from the origins to the future
Histocompatibility and Immunogenetics (H&I) laboratories have currently a significant relevance in clinical and re...
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Metformin reduces the cellular DNA repair capacity and enhances the effect of curcumin on the induction of apoptosis in AGS gastric cancer cells
Cancer results from the accumulation of mutations in critical genes, such as DNA repair genes. But these genes are a doubl...
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Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer
Early-onset breast cancer (EOBC) is a specific condition that affects women under the age of 45. BRCA pathogenic/likely pa...
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Allelic variation in TUSC1 gene: rs1462218557 is associated with male infertility and azoospermia
Male infertility is rapidly growing, and single nucleotide polymorphism (SNP) association studies are of critical importan...
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Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers
Alport syndrome (AS) is the second most prevalent genetic cause of kidney failure, behind autosomal-dominant polycystic ki...
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The role of miRNA-29b1, MMP-2, MMP-9 mRNAs, and proteins in early diagnosis of HCC
Hepatocellular carcinoma (HCC) is a common, serious malignancy with a dismal prognosis. As HCC is frequently missed in its...
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Higher incidence of co-expression of BCR-ABL fusion transcripts in an Eastern Indian population
Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, caused by a balanced reciprocal translocation (t(9...
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Investigating the importance of EGFR (− 216G/T), Exo1 (K589E) and LEP (− 2548G/A) gene polymorphisms with risk of lung cancer as potential diagnostic biomarker in Iranian population
In Iran, lung cancer is the third most common type of cancer and its prevalence is increasing rapidly. Identification info...
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First application of next-generation sequencing in four families with Wilson disease in Morocco
Wilson disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in various organs, pri...
Egyptian Journal Of Medical Human Genetics
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Genetic and metabolic aspects of non-alcoholic fatty liver disease (NAFLD) pathogenicity
Non-alcoholic fatty liver disease (NAFLD) is the most common chronic liver disease showing a rising prevalence globally. G...
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Association of angiotensin-converting enzyme I/D polymorphism and apolipoprotein B with cardiometabolic abnormalities among young adults: a pilot study from Delhi
Angiotensin-converting enzyme (ACE) gene polymorphism and elevated apolipoprotein B (apoB) are important risk factors for ...
Egyptian Journal Of Medical Human Genetics
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Integrated structure model-based virtual screening approaches identified anti-cancer agents against prostate cancer by targeting MAOB protein
Flavin monoamine oxidase gene encodes a protein (MAOB) that forms a part of the flavin monoamine oxidase family in the out...
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