SpringerOpen » Egyptian Journal of Medical Human Genetics
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Egyptian Journal of Medical Human Genetics (EJMHG) is 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.
SpringerOpen » Egyptian Journal of Medical Human Genetics
1w ago
This study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (SMS), in a large cohort of autism spectrum disorder (ASD) whole-genome sequencing samples. We aim ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1w ago
Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal polymicrogyria (BFPP) has been associated with pathogenic variants in the ADGRG1 g ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
3w ago
Statins are well known for their efficacy to improve lipid profiles. Their efficacy varies between individuals and can be modified by patient factors such as genetic polymorphisms. This study used a cross-sect ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
The CXCR4 chemokine receptor is a G protein-coupled receptor that plays a role in many physiological processes and diseases, such as cancer metastasis, HIV infection, and immune response. Because of this, it m ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
It is known that BRCA1 and BRCA2 genes’ mutation carriers are predisposed to breast and ovarian cancers and other organ cancers such as prostate, colon and cervix. In the previous study performed at X University ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
The link between anxiety and tinnitus severity has garnered significant scholarly interest, with numerous studies identifying a positive correlation. Despite this, the genetic basis of this relationship remain ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
Hepatocellular carcinoma (HCC) is a severe threat and a main reason for cancer-related deaths around the world. Drug resistance to sorafenib (Sorf), the effective HCC first-line therapy, is very common. A numb ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
Colorectal cancer (CRC) is a major cause to global cancer-related mortality. The development of colorectal cancer is linked to hereditary variables that exhibit variability ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
Iron deficiency contributes for over half of all anaemia cases, especially among women and children. Iron deficiency anaemia remains a serious public health concern worldwide. The aim of this study is to deter ..read more
SpringerOpen » Egyptian Journal of Medical Human Genetics
1M ago
Thalassemia is one of the most common chronic diseases, which cause many problems for the patients, families, and health system. The aim of this study was to evaluate the effectiveness of the application of an ..read more