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Egyptian Journal of Medical Human Genetics

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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.

Notice

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 http://www.ejmhg.eg.net


Vol 18, No 4 (2017)

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Table of Contents

Articles

CYP2D6 pharmacogenomics EMAIL FREE FULL TEXT
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Mohanan Geetha Gopisankar 309-313
Global distribution of consanguinity and their impact on complex diseases: Genetic disorders from an endogamous population EMAIL FREE FULL TEXT
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Abdulbari Bener, Ramzi R. Mohammad 315–320
Identification of functional SNPs in human LGALS3 gene by in silico analyses EMAIL FREE FULL TEXT
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Tarnjeet Kaur, Kshema Thakur, Jatinder Singh, Sukhdev Singh Kamboj, Manpreet Kaur 321–328
Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women: A meta-analysis EMAIL FREE FULL TEXT
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Chaymaa Marouf, Omar Hajji, Amal Tazzite, Hassan Jouhadi, Abdellatif Benider, Sellama Nadifi 329–334
Distribution of HLA-DRB1/DQB1 alleles and DRB1-DQB1 haplotypes among Tunisian patients with autoimmune hepatitis EMAIL FREE FULL TEXT
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Marwa Chaouali, Radhia Kochkar, Amira Messadi, Aymen Tezeghdenti, Mouna Ben Azaiez, Hatem Ben Abdallah, Basma Yacoubi-Oueslati, Ezzeddine Ghazouani 335–339
Open-array analysis of genetic variants in Egyptian patients with type 2 diabetes and obesity EMAIL FREE FULL TEXT
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Hanaa R.M. Attia, Solaf A. Kamel, Mona H. Ibrahim, Heba A. Farouk, Amany H.A. Rahman, Ghada H. Sayed, Nevine I. Musa 341–348
Screening of polymorphisms in the folate pathway in Turkish pediatric Acute Lymphoblastic Leukemia patients EMAIL FREE FULL TEXT
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Dilara Fatma Akin, Deniz Aslar Oner, Kadir Sipahi, Mine Mumcuoglu, Emin Kurekci, Ustun Ezer, Nejat Akar 349–353
Comparison of multiplex reverse transcription-PCR-enzyme hybridization assay with immunofluorescence techniques for the detection of four viral respiratory pathogens in pediatric community acquired pneumonia EMAIL FREE FULL TEXT
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Mervat Gamal Eldin Mansour, Sherin Albendary 355–358
Association assessment of platelet derived growth factor B gene polymorphism and its expression status with susceptibility to coronary artery disease EMAIL FREE FULL TEXT
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Shayesteh Rezayani, Touraj Farazmandfar, Majid shahbazi 359–363
Detection of Helicobacter pylori vacA, cagA and iceA1 virulence genes associated with gastric diseases in Egyptian patients EMAIL FREE FULL TEXT
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Ahmed El-Shenawy, Manal Diab, Mohamed Shemis, Maged El-Ghannam, Dalia Salem, Moustafa Abdelnasser, Mohamed Shahin, Mahmoud Abdel-Hady, Effat El-Sherbini, Mohamed Saber 365–371
Role of toll like receptors in bacterial and viral diseases – A systemic approach EMAIL FREE FULL TEXT
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Avishek Das, Pokhraj Guha, Debapriya Sen, Tapas Kumar Chaudhuri 373–379
A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of HCM patients in Egypt EMAIL FREE FULL TEXT
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Heba Sh. Kassem, Roddy Walsh, Paul J. Barton, Besra S. Abdelghany, Remon S. Azer, Rachel Buchan, Shibu John, Ahmed Elguindy, Sarah Moharem-ElGamal, Hala M. Badran, Hoda Shehata, Stuart A. Cook, Magdi H. Yacoub 381–387
Extremely low frequency electromagnetic field in combination with β-Lapachone up-regulates the genes of non-homologous end joining EMAIL FREE FULL TEXT
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Fatemeh Sanie-Jahromi, Hamideh Mahmoudinasab, Mostafa Saadat 389–392
An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings EMAIL FREE FULL TEXT
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Solaf M. Elsayed, Radwa Gamal 393–396
Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II EMAIL FREE FULL TEXT
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Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad 397-401


ISSN: 1110-8630
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