Search Results - "phenotyping"

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32 by Gecz Jozef, Liebelt Jan E, Laurie Kate J, Hattersley Kathryn, Durkin Shane R, Craig Jamie E, Burdon Kathryn P

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Ebselen, Iron Uptake Inhibitor, Alleviates Iron Overload-Induced Senescence-Like Neuronal Cells SH-SY5Y via Suppressing the mTORC1 Signaling Pathway by Sirirak Mukem, Ibrahim Sayoh, Saowanee Maungchanburi, Tipsuda Thongbuakaew

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Partial masculinization of Aedes aegypti females by conditional expression of Nix. by Bianca B Kojin, Emma Jakes, James K Biedler, Zhijian Tu, Zach N Adelman

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Identifying of 22q11.2 variations in Chinese patients with development delay by Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Rong He, Yanyan Zhao

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Gold nanoparticle-directed autophagy intervention for antitumor immunotherapy via inhibiting tumor-associated macrophage M2 polarization by Siyue Zhang, Fangyuan Xie, Kaichun Li, He Zhang, You Yin, Yuan Yu, Guangzhao Lu, Shihao Zhang, Yan Wei, Ke Xu, Yan Wu, Hong Jin, Lan Xiao, Leilei Bao, Can Xu, Yulin Li, Ying Lu, Jie Gao

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Very Early-Onset Inflammatory Bowel Disease (VEO-IBD) Presenting with Recurrent Leukocytoclastic Vasculitis Preceded by Streptococcal Pharyngitis by Ashley Fonseca, Julee Sunny, Lina M. Felipez

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Mutations in <i>embB</i>406 Are Associated with Low-Level Ethambutol Resistance in Canadian <i>Mycobacterium tuberculosis</i> Isolates by Morgan Hiebert, Meenu K. Sharma, Melissa Rabb, Lisa Karlowsky, Kiana Bergman, Hafid Soualhine

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Identification of multi-drug resistant <it>Pseudomonas aeruginosa </it>clinical isolates that are highly disruptive to the intestinal epithelial barrier by Shevchenko Olga, Bethel Cindy, Wang Yingmin, Kohler Jonathan E, Zaborina Olga, Wu Licheng, Turner Jerrold R, Alverdy John C

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Comparison of Five Different Selective Agar for the Detection of Vancomycin-Resistant <i>Enterococcus faecium</i> by Alessa L. Boschert, Franca Arndt, Axel Hamprecht, Martina Wolke, Sarah V. Walker

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Infantile systemic hyalinosis: Variable grades of severity by Ali Al Kaissi, Marwa Hilmi, Zulfiya Betadolova, Sami Bouchoucha, Svetlana Trofimova, Mohammad Shboul, Guseyn Rustamov, Wiam Dwera, Katharina Sigl, Vladimir Kenis, Susanne Gerit Kircher

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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family by Ming-Xia Sun, Miao Jing, Ying Hua, Jian-Biao Wang, Sheng-Quan Wang, Li-Lan Chen, Liang Ju, Yan-Shan Liu

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Mucopolysaccharidosis Type I (Hurler - Scheie Syndrome): Case Report by Nato D. Vashakmadze, Olga I. Gumenuyk, Yuri V. Chernenkov, Ekaterina Yu. Zacharova, Igor A. Glushakov

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Clinical and genetic characteristics of ectodermal dysplasia in four Indian children by Divya Kamat, Rahul Mahajan, Debajyoti Chatterjee, Jaivinder Yadav, Rakesh Kumar, Devi Dayal, Dipankar De, Sanjeev Handa

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Red cell distribution width as a surrogate marker of haemoglobinopathies in western Kenya by Benard M. Mutua, George Sowayi, Patrick Okoth

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Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex by Olga Lavinda, Prashiela Manga, Seth J. Orlow, Timothy Cardozo

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Gut Microbiome Dysbiosis and Immunometabolism: New Frontiers for Treatment of Metabolic Diseases by José E. Belizário, Joel Faintuch, Miguel Garay-Malpartida

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Macrolide resistance pattern of staphylococci collected from hospitalized patients in Egypt by Amr Bishr, Khaled M. Aboshanab, Mahmoud A. Yassien, Nadia A. Hassouna

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The impact of hyperandrogenemia on pregnancy complications and outcomes in patients with PCOS: a systematic review and meta-analysis by Xiaohan Guo, Yingsha Yao, Ting Wang, Juanhong Wu, Ruoan Jiang

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Therapeutic Opportunities for Intestinal Angioectasia‐ Targeting PPARγ and Oxidative Stress by Mayur Sarangdhar, Mary B. Yacyshyn, Andrew R. Gruenzel, Melinda A. Engevik, Nathaniel L. Harris, Bruce J. Aronow, Bruce R. Yacyshyn

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Genome-wide analysis of aberrant methylation of enhancer DNA in human osteoarthritis by Xiaozong Lin, Li Li, Xiaojuan Liu, Jun Tian, Weizhuo Zheng, Jin Li, Limei Wang

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