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Egyptian Journal of Medical Human Genetics

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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 17, No 1 (2016)

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Table of Contents

Articles

Pathogenetics. An introductory review EMAIL FREE FULL TEXT
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Mohammad Saad Zaghloul Salem 1-23
Frequency and pattern of cytogenetic alterations in primary amenorrhea cases of Kashmir, North India EMAIL FREE FULL TEXT
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Tahir M. Malla, Fayaz A. Dar, Arshad A. Pandith, Mahrukh H. Zargar 25-31
Association of 308G/A TNF-α gene polymorphism and spontaneous preterm birth in Acehnese ethnic group, Indonesia: This polymorphism is not associated with preterm birth EMAIL FREE FULL TEXT
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Mohd Andalas, Mohammad Hakimi, Detty Siti Nurdiati, Indwiani Astuti, Imran Imran, Harapan Harapan 33-40
Cyclooxygenase 1 (COX1) expression in Type 2 diabetes mellitus: A preliminary study from north India EMAIL FREE FULL TEXT
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Sushma Verma, Honey Chandra, Monisha Banerjee 41-45
Pilot study for early prognosis of Azoospermia in relation to Y-STR Profiling EMAIL FREE FULL TEXT
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Ahmed M. Refaat 47-56
Chromosomal abnormalities and autism EMAIL FREE FULL TEXT
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Farida El-Baz, Mohamed Saad Zaghloul, Ezzat El Sobky, Reham M Elhossiny, Heba Salah, Neveen Ezy Abdelaziz 57-62
Magnesium supplementation in children with attention deficit hyperactivity disorder EMAIL FREE FULL TEXT
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Farida El Baza, Heba Ahmed AlShahawi, Sally Zahra, Rana Ahmed AbdelHakim 63-70
α-4 subunit of nicotinic acetylcholine receptor polymorphisms exhibit no association with smoking behavior among Malay Males in Kelantan, Malaysia EMAIL FREE FULL TEXT
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A.B. Ruzilawati, N.I. Abd Rozak, A.B. Norsuhaily, A. Imran 71-77
Circulating cell free DNA as a predictor of systemic lupus erythematosus severity and monitoring of therapy EMAIL FREE FULL TEXT
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Olfat M. Hendy, Tawfik Abdel Motalib, Mona A. El Shafie, Fatma A. Khalaf, Sobhy E. Kotb, Aziza Khalil, Salwa R. Ali 79-85
Do the MTHFR gene polymorphism and Down syndrome pregnancy association stands true? A case–control study of Indian population and meta-analysis EMAIL FREE FULL TEXT
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Srinivasan Muthuswamy, Sarita Agarwal 87-97
Apolipoprotein E gene polymorphism in Egyptian acute coronary syndrome patients EMAIL FREE FULL TEXT
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Aida A. Mahmoud, Laila M. Yousef, Nayl Abd Elhamed Zaki 99-103
Distribution of ABO blood groups and rhesus factor in a Large Scale Study of different cities and ethnicities in Khuzestan province, Iran EMAIL FREE FULL TEXT
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J. Torabizade maatoghi, M. Paridar, M. Mahmodian Shoushtari, B. Kiani, B. Nori, M. Shahjahani, A. Khosravi, N. Amani kelarijani, O. Kiani ghalesardi, M.A. Jalali Far 105-109
Susceptibility to methamphetamine dependence associated with high transcriptional activity alleles of VNTR polymorphism in the promoter region of monoamine oxidase A (MAOA) EMAIL FREE FULL TEXT
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Khyber Saify, Mostafa Saadat 111-114
Exploring the link between VDR rs2228570 and uterine leiomyoma in Iranian women EMAIL FREE FULL TEXT
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Shirin Shahbazi 115-118
Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum EMAIL FREE FULL TEXT
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Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad 119-123
Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism EMAIL FREE FULL TEXT
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J.A. Avina Fierro, D.A. Hernandez Avina 125-129
Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach EMAIL FREE FULL TEXT
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Mohamad-Reza Aghanoori, Ghazaleh Mohammadzadeh Shahriary, Mahdi Safarpour, Ahmad Ebrahimi 131-136
Cytogenetic diagnosis of Roberts SC phocomelia syndrome: First report from Kashmir EMAIL FREE FULL TEXT
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Tahir M. Malla, Arshad A. Pandith, Fayaz A. Dar, Mahrukh H. Zargar 137-140


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