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Egyptian Journal of Medical Human Genetics is a peer-reviewed journal published by Springer Nature, covering Cancer-related molecular mechanisms research, RNA modifications and cancer, Genomics and Rare Diseases.
| Publisher | Springer Nature |
|---|---|
| Reference style | Superscript numbered (Nature) Superscript — small raised numerals in the text 1. Smith, A., Jones, B. & Lee, C. A representative article title. Egyptian Journal of Medical Human Genetics 12, 45–58 (2023).
Formats any DOI in Egyptian Journal of Medical Human Genetics style. No sign-up. |
| Publishes research in | Cancer-related molecular mechanisms research RNA modifications and cancer Genomics and Rare Diseases Hemoglobinopathies and Related Disorders MicroRNA in disease regulation |
| ISSN | 1110-8630 |
| Citation impact (2-yr) | 1.57 |
| h-index | 37 |
| i10-index | 281 |
| Total citations | 9,401 |
| Open access | Yes |
| Top institutions publishing here | Ain Shams University |
| Journal website | jmhg.springeropen.com |
| You get | A submission-ready PDF and the editable LaTeX source — ready to submit. |
Citations each year’s papers have accumulated so far — the most recent years are still building up.
Abstract Background Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, disturbance in hypothalamic-pituitary-ovarian axis and abnormal steroidogenesis along with genetic and environmental factors act as main contributors to this disorder. Main text Hyperandrogenism, the hallmark feature of PCOS,…
Abstract Background Cells have evolved balanced mechanisms to protect themselves by initiating a specific response to a variety of stress. The TP53 gene, encoding P53 protein, is one of the many widely studied genes in human cells owing to its multifaceted functions and complex dynamics. The tumour-suppressing activity of P53 plays a principal role in…
Consanguineous marriages have been practiced since the early existence of modern humans. Until now, consanguinity is widely practiced in several global communities with variable rates. The present study was undertaken to analyze the effect of consanguinity on different types of genetic diseases and child morbidity and mortality. Patients were grouped according to the types of…
Abstract Background Receptor tyrosine kinases (RTKs) are signaling enzymes responsible for the transfer of Adenosine triphosphate (ATP) γ-phosphate to the tyrosine residues substrates. RTKs demonstrate essential roles in cellular growth, metabolism, differentiation, and motility. Anomalous expression of RTK customarily leads to cell growth dysfunction, which is connected to tumor takeover, angiogenesis, and metastasis. Understanding the…
Consanguinity is the blood relationship that exists among individuals that descend from a common ancestor. The objectives of the study was to explore the frequency and socio-economic determinants of consanguinity in Egypt. The study was carried out using a cross-sectional approach which included 10,000 unselected couples. All couples were recruited from the prenatal, gynecologic, neonatal…
