As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.
COVID-19 and impact on peer review
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Spinal muscular atrophy in Venezuela: quantitative analysis of SMN1 and SMN2 genes
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Double aneuploidy 48,ХХХ,+21 of a Bulgarian newborn with Down phenotype: a case report
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Novel mutation in perforin gene causing familial hemophagocytic lymphohistiocytosis type 2 in an Egyptian infant: case report
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Purinergic signalling pathway: therapeutic target in ovarian cancer
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Exploring receptor tyrosine kinases-inhibitors in Cancer treatments
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Omphalocele: a review of common genetic etiologies
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Hyperandrogenism in polycystic ovarian syndrome and role of CYP gene variants: a review
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Computer-aided identification of lung cancer inhibitors through homology modeling and virtual screening
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MTHFR gene polymorphism and associated nutritional deficiency in the etiology and pathogenesis of Down syndrome
About the Society
The Egyptian Journal of Medical Human Genetics is the official journal of the Egyptian Society of Human Genetics. The society aims to target the advancing field of human genetics through education and training courses, allowing researchers to explore its full aspects.
About the Editor
Professor Rabah Shawky - MD
Professor Shawky is a lecturer of Pediatrics and Genetics and has held the position as Head of the Pediatrics department since 2017. Prof. Shawky’s role extends to being the Head of Genetics Centre for the past 8 years at Ain Shams University, Egypt.
She pioneered the construction of the first Molecular Diagnostic Laboratory in the Genetics department and the first clinic for the early intervention program. In her various roles as an academician and a geneticist, Prof. Shawky is the Chief Editor of the Egyptian Journal of Human Medical Genetics and the reviewer for many international journals. Her role continues to expand as a consultant in the National Neonatal Screening Program in Egypt and has guided scientific research projects from centers such as the Academy of Science and Technology in Egypt.
Prof. Shawky has published more than 125 publications, varying from international peer-reviewed journals to authoring a chapter on genetics the Pediatrics book for undergraduate students in Ain-Shams University.
In addition to being on the board of several committees related to Pediatrics and Genetics in Egypt, Prof. Shawky is also the President of the Egyptian Society of Human Genetics, Egyptian Society of Friends of Families of Genetic Diseases and Egyptian Scientific Society of Human Teratology. She was elected as a member of the GAGS Advisory Committee in Dubai 2018. She was granted the annual Evaluative prize of Ain-Shams University for Medical Science in 2013 and awarded as a Distinctive Arab Female Geneticist in Bahrain, 2009. She completed teaching and examination activities in Genetics and has held the role of Chairperson and Speaker in many international conferences. In addition, Prof. Shawky is titled as the President of many research projects.
Aims and scope
Egyptian Journal of Medical Human Genetics (EJMHG) is an open access, peer-reviewed journal with a focus on reporting innovations within the field of human and medical genetics. The journal considers articles on all aspects of the genetic basis of human disease, with a particular emphasis on biochemical genetics, biological studies of enzymes and other protein deficiencies, as well as immunogenetics. Other topics of interest include investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Articles presenting clinical applications of genomics and next generation sequencing technologies are considered valuable contributions.
Egyptian Journal of Medical Human Genetics welcomes submissions of editorials, research, reviews, case reports, correspondence, meta-analysis and commentaries.
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Egyptian Journal of Medical Human Genetics is the official journal of The Egyptian Societies of Medical Human Genetics.
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- ISSN: 2090-2441 (electronic)
