Human Genetics of Diabetic Retinopathy: Current Perspectives by Daniel P. K. Ng

“…Efforts to unravel the human genetics of DR have been undertaken using the candidate gene and linkage approaches, while GWAS efforts are still lacking. …”
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Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder by Yuan Tian, Hui Qiao, KathrynAnn Odamah, Ling-Qiang Zhu, Heng-Ye Man

Subjects: “…Human genetics…”
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Human genetic engineering and social justice in South Africa: Moltmann and human dignity by M. Kotzé

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The use of premature chromosome condensation to study in interphase cells the influence of environmental factors on human genetic material by Vasiliki I. Hatzi, Georgia I. Terzoudi, Christina Paraskevopoulou, Vasilios Makropoulos, Demetrios P. Matthopoulos, Gabriel E. Pantelias

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Comparing genomic studies in animal breeding and human genetics: focus on disease-related traits in livestock — A review by Olivier Gervais, Yoshitaka Nagamine

“…In many respects, these human genetic methods are similar to those originally developed for the estimation of breeding values (i.e., total additive genetic effects) in livestock. …”
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Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia by Jacqueline E. Taudien, Diana Bracht, Heike Olbrich, Sebastian Swirski, Fulvio D’Abrusco, Bert Van der Zwaag, Maike Möller, Thomas Lücke, Norbert Teig, Ulrika Lindberg, Kai Wohlgemuth, Julia Wallmeier, Anja Blanque, Christos Gatsogiannis, Sebastian George, Christoph Jüschke, Marta Owczarek-Lipska, Dorothee Veer, Hester Y. Kroes, Enza Maria Valente, G. Christoph Korenke, Heymut Omran, John Neidhardt

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Utilizing sc-linker to integrate single-cell RNA sequencing and human genetics to identify cell types and driver genes associated with non-small cell lung cancer by Yangfan Zhou, Liang Zhao, Meimei Cai, Doudou Luo, Yizhen Pang, Jianhao Chen, Qicong Luo, Qin Lin

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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

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A Review of Mendelian Randomization: Assumptions, Methods, and Application to Obesity-Related Diseases by Seungjae Lee, Woojoo Lee

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Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

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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

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene by Mehr Ali Mahmood Janlou

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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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

“…Egyptian Journal of Medical Human Genetics…”
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