The EJMHG is a peer reviewed journal that publishes articles in English reporting original investigations in the field of human and medical Genetics.

The scope of the journal includes genetic basis of human disease such as clinical genetics and dysmorphology, cytogenetics, pharmacogenetics, cancer genetics, behavioral genetics, community genetics, screening of monogenic and polygenic disorders, fetal pathology, prenatal and pre-implantation genetic diagnosis and genetic counseling as well as advances in prevention and treatment of genetic disorders.

The scope of the journal also includes biochemical genetics with an emphasis on biological studies of enzymes and other protein deficiencies and immunogenetics. In addition, the journal highlights fundamental investigations of the pathogenesis of inherited disorders and practical advances in the molecular diagnosis of human disease. Clinical application of genomics and next generation sequencing technologies are considered valuable contributions.

The journal is published by the Egyptian Society of Human Genetics, Medical Genetics Center, Ain Shams University. It will consider reviews, review articles, original articles, case reports, announcements, editorials, editorial comments, correspondence, issue highlights, surveys and product reviews.

© 2017 Ain Shams University. Production and hosting by Elsevier B.V. All rights reserved.


No responsibility is assumed by Egyptian Society of Human Genetics or Elsevier for any injury and/or damage to persons, property as a matter of products liability, negligence, or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.

Although all advertising material is expected to conform to ethical (medical) standards, inclusion in this publication does not constitute a guarantee or endorsement of the quality or value of such product or of the claims made of it by its manufacturer.

Covered in the abstract and citation database Scopus®. Full text available on ScienceDirect®. 

Abstracts and journal information can be found at

Published: 2019-01-14

Helicobacter pylori Western cagA genotype in Egyptian patients with upper gastrointestinal disease

Manal Diab, Mohamed Shemis, Doaa Gamal, Ahmed El-Shenawy, Maged El-Ghannam, Effat El-Sherbini, Mohamed Saber


Angiotensin-converting enzyme (ACE) I/D and bradykinin B2 receptor T/C genes polymorphism in patients with ACE inhibitors-related cough

Mohammad Saifur Rohman, Jonny Karunia Fajar, Bagus Hery Kuncahyo, Lowry Yunita, Erdo Puncak Sidarta, Putu Nina Belinda Saka, Teuku Heriansyah, Nashi Widodo


Study of DNA methyl transferase 3A mutation in acute myeloid leukemic patients

Ghada M. Elsayed, Abd Elgawad A. Fahmi, Nevine F. Shafik, Reham A.A. Elshimy, Heba K. Abd Elhakeem, Sara A. Attea


FLT3 receptor/CD135 expression by flow cytometry in acute myeloid leukemia: Relation to FLT3 gene mutations and mRNA transcripts

Mohamed Amin Mekawy, Deena Samir Eissa, Mohamed Tarif Hamza, Gehan Mostafa Hamed, Mariam Karam Youssef


Evaluation of health-related quality of life and muscular strength in children with beta thalassemia major

Dina K. Ismail, Mona H. El-Tagui, Zeinab A. Hussein, Mohamed A. Eid, Sobhy M. Aly


Study of congenital malformations in infants and children in Menoufia governorate, Egypt

Soheir S. AbouEl-Ella, Maha A. Tawfik, Wafaa Moustafa M. Abo El-Fotoh, Mai A. Elbadawi


Renalase gene polymorphisms (rs2576178 and rs10887800) in Egyptian hypertensive end stage renal disease patients

Noha S. Kandil, Rania Mohamed El Sharkawy, Lubna Mohamed Ibrahim Desouky, Lamia Said Kandil, I.M. Masoud, Noha Gaber Amin


Metadherin mRNA expression in hepatocellular carcinoma

Nevein M. Al-sheikh, Sally M. El-Hefnway, Ahmed M. Abuamer, Ashraf G. Dala


Detection of antimicrobial resistance genes of Helicobacter pylori strains to clarithromycin, metronidazole, amoxicillin and tetracycline among Egyptian patients

Manal Diab, Ahmed El-Shenawy, Maged El-Ghannam, Dalia Salem, Moustafa Abdelnasser, Mohamed Shaheen, Mahmoud Abdel-Hady, Effat El-Sherbini, Mohamed Saber


Genetic study of the NOTCH3 gene in CADASIL patients

Seyedeh Parisa Chavoshi Tarzjani, Seyed Abolhassan Shahzadeh Fazeli, Mohammad Hossein Sanati, Zahra Mirzayee


Cantu syndrome in an Egyptian child

Rabah M. Shawky, Radwa Gamal


Asymptomatic hemochromatosis case with HFE c.1007-47G>A, c.340+4T>C heterozygous mutations and alpha globin -3.7 kb deletion

Vesile Deniz Çelik, Betul Orhan Kiliç, Yasemin Ardıçoğlu Akışin, Fatma Ajlan Tükün, Nejat Akar


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Journal Identifiers

eISSN: 1110-8630