The Journal publishes papers reporting original investigations in the field of human and medical genetics. The scope of the journal includes biochemical, cell biological, molecular genetics and structural biological studies of enzyme and other protein deficiencies, and fundamental investigations of the pathogenesis of inherited and acquired disorders. In addition to basic investigations, practical advances in the biochemical and molecular diagnoses of human diseases will be considered valuable contributions
Abstracts and journal information can be found at http://www.ejmhg.eg.net
Vol 18, No 4 (2017)
Open Access
Subscription or Fee Access
Table of Contents
Articles
| CYP2D6 pharmacogenomics |
EMAIL FREE FULL TEXT
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| Abdulbari Bener, Ramzi R. Mohammad | 315–320 |
| Identification of functional SNPs in human LGALS3 gene by in silico analyses |
EMAIL FREE FULL TEXT
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| Dilara Fatma Akin, Deniz Aslar Oner, Kadir Sipahi, Mine Mumcuoglu, Emin Kurekci, Ustun Ezer, Nejat Akar | 349–353 |
| Association assessment of platelet derived growth factor B gene polymorphism and its expression status with susceptibility to coronary artery disease |
EMAIL FREE FULL TEXT
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| 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
DOWNLOAD FULL TEXT
|
| Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad | 397-401 |
ISSN: 1110-8630
