PROMOTING ACCESS TO AFRICAN RESEARCH

Egyptian Journal of Medical Human Genetics - Vol 19, No 2 (2018)

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Table of Contents

Articles

Fetal MTHFR C677T polymorphism confers no susceptibility to Down syndrome: Evidence from meta-analysis EMAIL FREE FULL TEXT
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Vandana Rai, Pradeep Kumar 53-58
The endoplasmic reticulum stress response in disease pathogenesis and pathophysiology EMAIL FREE FULL TEXT
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Rafael Vincent M. Manalo, Paul Mark B. Medina 59-68
Current strides in AAV-derived vectors and SIN channels further relieves the limitations of gene therapy EMAIL FREE FULL TEXT
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A.S. Odiba, V.E. Ottah, O.O. Anunobi, C.Y. Ukegbu, R Uroko, C.U. Ottah, A.A. Edeke, K Omeje 69-75
R102G polymorphism of the complement component 3 gene in Malaysian subjects with neovascular age-related macular degeneration EMAIL FREE FULL TEXT
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Nur Afiqah Mohamad, Vasudevan Ramachandran, Patimah Ismail, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Norshakimah Md Bakri, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman 77-81
Impact of migration on the expression of aggression and empathy in urban populations EMAIL FREE FULL TEXT
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Lubov Atramentova, Ekaterina Luchko, Olga Filiptsova 83-86
Clinical Utility of promoter methylation of the tumor suppressor genes DKK3, and RASSF1A in breast cancer patients EMAIL FREE FULL TEXT
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Marwa H. Saied, Aya Samy Rady, Galal Mustafa Abo El Naga, Ola A. Sharaki 87-90
XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population EMAIL FREE FULL TEXT
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Rouf Maqbool, Shajrul Amin, Sabhiya Majeed, Aaliya Bhat, Shayaq ul Abeer Rasool, Mudasar Nabi 91-95
Correlation between cognitive function, gross motor skills and health – Related quality of life in children with Down syndrome EMAIL FREE FULL TEXT
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Saly Said Abd El-Hady, Faten Hassan Abd El-Azim, Hoda Abd El-Aziem Mohamed El-Talawy 97-101
Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients EMAIL FREE FULL TEXT
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G.M. Mokhtar, M.S. El Alfy, F.S.E. Ebeid, M.A. El Sawi, M.H. Fayek, A.A.M. Adly, Asama Zaki 103-106
The V279F polymorphism might change protein character and immunogenicity in Lp-PLA2 protein EMAIL FREE FULL TEXT
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Widodo Widodo, Anggia Noor Ramadhani, Anissa Nofitasari, Sapti Puspitarini, Didik Priyandoko, Mohammad Saifur Rohman, Mifetika Lukitasari 107-112
Study of serum copper and ceruloplasmin levels in Egyptian autistic children EMAIL FREE FULL TEXT
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Farida El-Baz, Mohamed E. Mowafy, Ahmed Lotfy 113-116
Detecting Mycoplasma pneumoniae infections in nasopharyngeal specimens from Paediatric patients with asthma exacerbations in Baghdad: A Polymerase Chain Reaction – Gene based study EMAIL FREE FULL TEXT
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Muhi Kadhem Wannas Al-Janabi, Saad Hasan Mohammed Ali, Nadia Aziz Nasir, Muhammed Wehby 117-121
Association of adiponectin gene (ADIPOQ) polymorphisms with measures of obesity in Nigerian young adults EMAIL FREE FULL TEXT
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Olusegun E. Ogundele, Khalid O. Adekoya, Abraham A.A. Osinubi, Awoyemi A. Awofala, Bola O. Oboh 123-127
Alteration of rRNA gene copy number and expression in patients with intellectual disability and heteromorphic acrocentric chromosomes EMAIL FREE FULL TEXT
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Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alexander S. Graphodatsky, Ekaterina M. Galanina, Dmitry V. Yudkin 129-134
Multiplex polymerase chain reaction: Could change diagnosis of Ventilator-associated pneumonia in pediatric critical care units to the fast track? EMAIL FREE FULL TEXT
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Mervat Gamal Eldin Mansour, Sherin Albendary 135-139
Robertsonian translocation 13/14 associated with rRNA genes overexpression and intellectual disability EMAIL FREE FULL TEXT
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Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Irina S. Kolesnikova, Dmitry V. Yudkin 141-145
First report of microcephaly-capillary malformations syndrome in Russia EMAIL FREE FULL TEXT
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Nataliya S. Demikova, Victoria S. Kakaulina, Nataliya L. Pechatnikova, Nina A. Polyakova, Ekaterina Y. Zakharova, Tatyana D. Krylova, Marina V. Zubkova 147-150
Letter to the Editor: Are we missing fucosidosis? EMAIL FREE FULL TEXT
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Solaf Elsayed 151-152


ISSN: 1110-8630
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