All Stories

  1. Molecular characterization of imprinting disorders: Beckwith–Wiedemann, Silver–Russell, and Prader-Willi syndromes in Egyptian patients
  2. Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features
  3. Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome
  4. The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy
  5. New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects
  6. STAT3-CD163 cross-talk exhibits promising biomarkers for a progressive ischemic cardiomyopathy: integrative computational and gene expression profiling based on Gene Expression Omnibus datasets
  7. Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case–control study including meta-analysis based on 147 cases and 143 controls
  8. Dynamic disequilibrium-based pathogenicity model in mutated pyrin’s B30.2 domain—Casp1/p20 complex
  9. Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients
  10. Elevated expression of circulating CDR1as in childhood dilated cardiomyopathy patients; Expanding MAPK signaling pathway role in dilated cardiomyopathies pathogenesis.
  11. miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients
  12. DALIA- a comprehensive resource of Disease Alleles in Arab population
  13. The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients
  14. The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients
  15. Apoptosis, reactive oxygen species and DNA damage in Familial Mediterranean Fever patients
  16. Non-target Genes Regulate miRNAs-Mediated Migration Steering of Colorectal Carcinoma
  17. Synergism of DAZ and DAZL in patients samples with idiopathic non-obstructed azoospermia (NOA).
  18. An infertile azoospermic male with 45,X karyotype and a unique complex (Y;14); (Y;22) translocation: cytogenetic and molecular characterization
  19. Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever
  20. Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2
  21. Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child
  22. A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis
  23. Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility