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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 3 (2015)

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Table of Contents

Articles

Review: Cytokines in Gaucher disease: Role in the pathogenesis of bone and pulmonary disease EMAIL FREE FULL TEXT
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AAG Tantawy 207-213
http://dx.doi.org/10.1016/j.ejmhg.2015.02.001
Allelic prevalence of intron 3 insertion/deletion genetic polymorphism of DNA double-strand break repair gene XRCC4 in four healthy Iranian populations EMAIL FREE FULL TEXT
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L Fallahzadeh-Abarghooei, T Zahedi, F Mirabedi, M Saadat 215-218
Association of CYP3A4 and CYP3A5 polymorphisms with Iranian breast cancer patients EMAIL FREE FULL TEXT
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E Badavi, B Safavi, A Jalali, GM Shahriary, J Mohammadi-Asl, J Babaei 219-225
Lower HOMA-β values are detected among individuals with variant of E23K polymorphism of potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) gene EMAIL FREE FULL TEXT
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R Sunita, AH Sadewa, A Farmawati 227-231
Contrasting genetic influence of PON 1 coding gene polymorphisms L55M and Q192R on individuals’ response to environmental agents EMAIL FREE FULL TEXT
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NYS Morcos, MK El-Masry, MM Kamal, SY Galal 233-237
Occurrence and detection of AmpC β-lactamases among Enterobacteriaceae isolates from patients at Ain Shams University Hospital EMAIL FREE FULL TEXT
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SA El-Hady, LA Adel 239-244
http://dx.doi.org/10.1016/j.ejmhg.2015.03.001
Molecular study of developmental sex disorders in children EMAIL FREE FULL TEXT
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SS AboElella, MAM Tawfik, WMM Abo El-Fotoh 245-256
http://dx.doi.org/10.1016/j.ejmhg.2015.02.005
Assessment of the efficacy of desmopressin in treatment of Primary Monosymptomatic Nocturnal Enuresis in Egyptian children EMAIL FREE FULL TEXT
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F ElBaz, S Zahra, M Khairy 257-262
http://dx.doi.org/10.1016/j.ejmhg.2015.02.006
Sarcopenic obesity and dyslipidemia response to selective exercise program after liver transplantation EMAIL FREE FULL TEXT
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MA Basha, ZE Mowafy, EA Morsy 263-268
http://dx.doi.org/10.1016/j.ejmhg.2014.12.006
Shock wave therapy for spastic plantar flexor muscles in hemiplegic cerebral palsy children EMAIL FREE FULL TEXT
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HAA Gawad, AH Mohammed, AEA Karim 269-275
http://dx.doi.org/10.1016/j.ejmhg.2014.12.007
CASE REPORT Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child EMAIL FREE FULL TEXT
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RM Shawky, R Gamal, SA Mohammad 277-281
http://dx.doi.org/10.1016/j.ejmhg.2014.10.003
Plummer Vinson syndrome in a male and his chromosomal study – A case report EMAIL FREE FULL TEXT
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SK Swain, R Panigrahy, MC Sahu 283-286
http://dx.doi.org/10.1016/j.ejmhg.2015.04.002


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