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Egyptian Journal of Medical Human Genetics

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


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Vol 16, No 2 (2015)

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Table of Contents

Articles

Formal genetic maps EMAIL FREE FULL TEXT
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MSZ Salem 101-116
SIRT1 gene is associated with cardiovascular disease in the Iranian population EMAIL FREE FULL TEXT
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N Mohtavinejad, A Nakhaee, H Harati, J Poodineh, M Afzali 117-122
XmnI polymorphism: Relation to β-thalassemia phenotype and genotype in Egyptian Children EMAIL FREE FULL TEXT
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F Said, A Abdel-Salam 123-127
Study of the effect of HFE gene mutations on iron overload in Egyptian thalassemia patients EMAIL FREE FULL TEXT
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MM Wilson, H Al-Wakeel, F Said, M El-Ghamrawy, M Assaad, A El-Beshlawy 129-133
The population structure of Ukraine in relation to the phenylthiocarbamide sensitivity EMAIL FREE FULL TEXT
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OV Filiptsova, IA Timoshyna, YN Kobets, MN Kobets, IS Burlaka, IA Hurko 135-139
Comparative frequency and allelic distribution of ABO and Rh (D) blood groups of major tribal communities of southern Bangladesh with general population and their determinants EMAIL FREE FULL TEXT
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G Dewan 141-147
Multidisciplinary approach for evaluation of neurocutaneous disorders in children in Sohag University Hospital, Upper Egypt EMAIL FREE FULL TEXT
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AA Sadek, SN Abdel-Samad, MA Bakheet, IAA Hassan, WM Abd El Mageed, AM Emam 149-157
Prenatal genetic testing, counseling and follow-up of 33 Egyptian pregnant females with history of mucopolysaccharidoses EMAIL FREE FULL TEXT
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KR Gaber, MM Ibrahim, MK Farag, ZY Abdallah, SH Eldessouky, EM Fateen 159-163
Selective screening in neonates suspected to have inborn errors of metabolism EMAIL FREE FULL TEXT
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RM Shawky, HS Abd-El Khalek, SE Elakhdar 165-171
Integrated effect of treadmill training combined with dynamic ankle foot orthosis on balance in children with hemiplegic cerebral palsy EMAIL FREE FULL TEXT
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AEAA Sherief, AAA Gazya, MAA El Gafaar 173-179
Bicycle ergometer versus treadmill on balance and gait parameters in children with hemophilia EMAIL FREE FULL TEXT
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RA Mohamed, AEAA Sherief 181-187
Berardinelli–Seip syndrome type 2 – An Egyptian child EMAIL FREE FULL TEXT
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RM Shawky, R Gamal, NS Seifeldin 189-193
Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome? EMAIL FREE FULL TEXT
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KF Akl, JH Albaramki, EA Ghani, MA Al Qaisi, N Abujaber, P Tavares 195-197
Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12/PMP22 microduplication in a female with Charcot–Marie–Tooth disease type 1A EMAIL FREE FULL TEXT
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A Sidhu, M Hankerd, K Kennelly, M Kristofice, S Ebrahim 199-204
Letter to the Editor EMAIL FREE FULL TEXT
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M Saadat 205-206


The Egyptian Journal Of Medical Human Genetics.   ISSN: 1110-8630