Showing 1 - 20 results of 29 for search '"Egyptian Journal of Medical Human Genetics"', query time: 0.07s Refine Results
  1. 1
    An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

    An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis by Rabab El Hawary, Safa Meshaal, Alia S. Eldash, Sohilla Lotfy, Dalia Abd Elaziz, Radwa Alkady, Rania Darwish, Aya Erfan, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M. Elmarsafy

    Published 2024-12-01
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  2. 2
    Alu insertion polymorphisms and susceptibility to metabolic syndrome in a Moroccan population

    Alu insertion polymorphisms and susceptibility to metabolic syndrome in a Moroccan population by Hamid Farhane, Majida Motrane, Karchali Soufaine, Fatima-Ezzahra Anaibar, Aïcha Motrane, Said Nassor Abeid, Abderraouf Hilali, Nourdin Harich

    Published 2025-01-01
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  3. 3
    MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis

    MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis by Mohamad M. Assker, Mahdia Al Haidar, Marwan Faris, Ahmed Emara, Yousef Al Abrach, Maryam Al Shehhi

    Published 2025-01-01
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  4. 4
    Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants

    Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

    Published 2025-01-01
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  5. 5
    An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus

    An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus by Homa Noori, Majid Rajabian, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad, Ramin Saravani

    Published 2025-01-01
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  6. 6
    Unraveling relationship between the genetic polymorphism CYP2A13 and nicotine metabolism of male smokers in Medan, Indonesia

    Unraveling relationship between the genetic polymorphism CYP2A13 and nicotine metabolism of male smokers in Medan, Indonesia by Noni Novisari Soeroso, Rozaimah Zain-Hamid, Syamsul Bihar, Chaliza Soliha, Fannie Rizki Ananda, Aida

    Published 2025-02-01
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  7. 7
    In silico analysis of hub genes and regulatory networks implicates the putamen in non-motor Parkinson’s disease disorders

    In silico analysis of hub genes and regulatory networks implicates the putamen in non-motor Parkinson’s disease disorders by Stephen Tunmise Akanbi, Joshua Ayodele Yusuf, Thompson Oluwaferanmi Ayandele, Dayo Samson Oladipupo, Darasimi Racheal Olorunlowu, Blessing Dorcas Olawuyi, Joshua Oluwafisayo Adepoju, Dolapo Emmanuel Opasina, Elizabeth Kehinde Opoola, Uchenna Victor Ugwuanyi, Olufunto Omodele Adeleye

    Published 2025-01-01
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  8. 8
    A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene

    A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene by Mehr Ali Mahmood Janlou

    Published 2025-01-01
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  9. 9
    The relationship between gallstone disease and the genetic variants of the sterol transporter adenosine triphosphate–binding cassette G8 and G5 in Egyptians

    The relationship between gallstone disease and the genetic variants of the sterol transporter adenosine triphosphate–binding cassette G8 and G5 in Egyptians by Menna A. Hassan, Salwa M. Abo El-Khair, Noha M. Mesbah, Dina M. Abo-Elmatty, Asmaa R. Abdel-Hamed

    Published 2025-01-01
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  10. 10
    In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder

    In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder by Kübra Çoruh Kınalı, Ebru Özkan Oktay, Mesut Karahan

    Published 2025-01-01
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  11. 11
    Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer

    Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer by Olusola Olalekan Elekofehinti, Hannah Oluwaseun Popoola, Adedotun Olayemi Oluwatuyi, Opeyemi Iwaloye, Moses Orimoloye Akinjiyan, Oluwamodupe Cecilia, Frank Abimbola Ogundolie, Olalekan Isaac Olatunde, Oussama Abchir, Samir Chtita, Joao Batista Texeira Rocha

    Published 2025-01-01
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  12. 12
    Non-coding RNAs and exosomal ncRNAs in colorectal cancer

    Non-coding RNAs and exosomal ncRNAs in colorectal cancer by Yalda Zhoulideh

    Published 2025-02-01
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  13. 13
    Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients

    Impact of ABO gene polymorphism and von Willebrand factor on genetic susceptibility to acute lymphoblastic leukemia in Egyptian pediatric patients by Elsayed I. Salim, Ahmed N. Shaaban, Amal K. Seleem, Zeinab I. Attia

    Published 2025-01-01
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  14. 14
    First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p

    First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p by Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

    Published 2024-12-01
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  15. 15
    Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation

    Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation by Azin Shirani, Razieh Mirabbasi, Leila Shabani, Somayeh Reiisi

    Published 2025-01-01
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  16. 16
    Association of functional variants in miRNA genes with the risk of coronary heart disease

    Association of functional variants in miRNA genes with the risk of coronary heart disease by Taqweem Ul Haq, Muhammad Riaz Khan, Sajjad Ali, Tariq Aziz, Thamer H. Albekairi, Aftab Ali Shah

    Published 2025-02-01
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  17. 17
    Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia

    Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia by Yeswanth Ranganathan, Saayaa Nazar, Ravi Shankar Krishnan, Yuvaraj Dinakarkumar, Vijayalakshmi Varadarajan, Lenita Sebastian, Brindha Rethinam

    Published 2025-02-01
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  18. 18
    Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review

    Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review by David Olufemi Adebo, Mathew Folaranmi Olaniyan, Christian Onosetale Ugege, Odekunle Bola Odegbemi

    Published 2025-02-01
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  19. 19
    Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran

    Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafiseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

    Published 2025-01-01
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  20. 20
    Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia

    Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia by Ziravard N. Tonyan, Yulia A. Nasykhova, Maria M. Danilova, Elena S. Shabanova, Olesya N. Bespalova, Igor Y. Kogan, Andrey S. Glotov

    Published 2025-02-01
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