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2661
Phenylbutyric Acid Modulates Apoptosis and ER Stress‐Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2662
RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2663
Clinical characteristics of female Fabry disease patients with hypertrophic cardiomyopathy with mid-ventricular obstruction
Published 2025-03-01“…Molecular Genetics and Metabolism Reports…”
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2664
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2665
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
Published 2025-01-01“…Molecular Genetics & Genomic Medicine…”
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2666
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study
Published 2025-03-01“…Molecular Genetics and Metabolism Reports…”
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2667
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2668
An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2669
In silico analysis of hub genes and regulatory networks implicates the putamen in non-motor Parkinson’s disease disorders
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2670
A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2671
In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2672
Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2673
Non-coding RNAs and exosomal ncRNAs in colorectal cancer
Published 2025-02-01“…Egyptian Journal of Medical Human Genetics…”
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2674
Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2675
Association of functional variants in miRNA genes with the risk of coronary heart disease
Published 2025-02-01“…Egyptian Journal of Medical Human Genetics…”
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2676
Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia
Published 2025-02-01“…Egyptian Journal of Medical Human Genetics…”
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2677
Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2678
Determination of damaging SNP’s in SHANK3 gene with in silico methods
Published 2025-02-01“…Egyptian Journal of Medical Human Genetics…”
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2679
A meta-analysis of whole blood transcriptome reveals genes associated with increased neutrophil activity and T cell suppression in sepsis
Published 2025-01-01“…Egyptian Journal of Medical Human Genetics…”
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2680
Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia
Published 2024-12-01“…Egyptian Journal of Medical Human Genetics…”
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Article