Search Results - "phenotyping"

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability by Yoon Hee Jo, Soo Han Choi, Hye Won Yoo, Min Jung Kwak, Kyung Hee Park, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Woo Yeong Chung, Seung Hwan Oh, Young Mi Kim

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The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity by Celeste Chidiac, Yaping Xue, Maria del Mar Muniz Moreno, Ameer Abu Bakr Rasheed, Romain Lorentz, Marie-Christine Birling, Claire Gaveriaux-Ruff, Yann Herault, Yann Herault

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Genetic investigations on 8 patients affected by ring 20 chromosome syndrome by Giordano Lucio, Accorsi Patrizia, Finelli Palma, Marchi Margherita, Camporeale Nicole, Russo Silvia, Recalcati Maria, Ballarati Lucia, Vignoli Aglaia, Giardino Daniela, La Briola Francesca, Chiesa Valentina, Canevini Maria, Larizza Lidia

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Synergistic interactions between the NS3(hel) and E proteins contribute to the virulence of dengue virus type 1. by Luana de Borba, Daisy M Strottmann, Lucia de Noronha, Peter W Mason, Claudia N Duarte Dos Santos

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Antioxidant Properties of Tonsil-Derived Mesenchymal Stem Cells on Human Vocal Fold Fibroblast Exposed to Oxidative Stress by Sung-Chan Shin, Hyung-Sik Kim, Yoojin Seo, Cho Hee Kim, Ji Min Kim, Hyun-Keun Kwon, Jin-Choon Lee, Eui-Suk Sung, Byung-Joo Lee

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IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report by Yan Gong, Xiao Ping Lan, Sheng Guo

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Identification of six novel variants from nine Chinese families with hypophosphatemic rickets by Yixuan Cao, Yi You, Qiong Wang, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang, Xiuli Zhao

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<span style="font-variant: small-caps">l</span>-Arginine Induces White Adipose Tissue Browning-A New Pharmaceutical Alternative to Cold by Andjelika Kalezic, Aleksandra Korac, Bato Korac, Aleksandra Jankovic

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Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome by Chih-Ping Chen, Shin-Yu Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang

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A tripeptidyl peptidase 1 is a binding partner of the Golgi pH regulator (GPHR) in Dictyostelium by Maria Stumpf, Rolf Müller, Berthold Gaßen, Regina Wehrstedt, Petra Fey, Malte A. Karow, Ludwig Eichinger, Gernot Glöckner, Angelika A. Noegel

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Effect of Er Miao San on peritoneal macrophage polarisation through the miRNA-33/NLRP3 signalling pathway in a rat model of adjuvant arthritis by Min Liu, Xiangwen Meng, Zihua Xuan, Simeng Chen, Jin Wang, Zhiluo Chen, Jiayu Wang, Xiaoyi Jia

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Intrauterine exposure to preeclampsia does not impair vascular health in children by Benjamin J. Varley, Benjamin J. Varley, Amanda Henry, Amanda Henry, Amanda Henry, Amanda Henry, Lynne Roberts, Lynne Roberts, Gregory Davis, Gregory Davis, Michael R. Skilton, Michael R. Skilton, Michael R. Skilton, Maria E. Craig, Maria E. Craig, Maria E. Craig, Maria E. Craig, Megan L. Gow, Megan L. Gow, Megan L. Gow

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Translocator Protein 18 kDa (TSPO): A Promising Molecular Target for Image-Guided Surgery of Solid Cancers by Hendris Wongso, Ahmad Kurniawan, Yanuar Setiadi, Crhisterra E. Kusumaningrum, Eva M. Widyasari, Teguh H.A. Wibawa, Isa Mahendra, Muhamad B. Febrian, Maula E. Sriyani, Iim Halimah, Isti Daruwati, Rudi Gunawan, Arifudin Achmad, Dwianto H. Nugraha, Ronny Lesmana, Ari S. Nugraha

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The immediate impact of a balanced, very low-calorie diet on the metabolic health of Indian subjects - A prospective longitudinal study by Neeta Deshpande, A.H. Mamata, Reshma Parmaj, Sanjay Agarwal, Archana Sarda, Anjali Bhatt, Shilpa Joshi, Nitin Kapoor

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Therapeutic targets for muscle weakness in older adults: proteome-wide Mendelian randomization and colocalization analyses by Shuai-Kang Wang, Qi-Jun Wang, Xuan Zhao, Peng Wang, Xiang-Yu Li, Wei Wang, Shi-Bao Lu

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Monocytes play an IL-12-dependent crucial role in driving cord blood NK cells to produce IFN-g in response to Trypanosoma cruzi. by Aline Guilmot, Julie Bosse, Yves Carlier, Carine Truyens

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Association of IL-17F rs763780 polymorphism and risk of psoriasis in Turkish population: a case-control study by Ayşegül Başak Akadam-Teker, Burak Akşan

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A comparative study of the effects of vitamin C, sirolimus, and paclitaxel on the growth of endothelial and smooth muscle cells for cardiovascular medical device applications by Kakade S, Mani G

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Knockout and Inhibition of Ape1: Roles of Ape1 in Base Excision DNA Repair and Modulation of Gene Expression by Zhouyiyuan Xue, Bruce Demple

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Th1Th17CM Lymphocyte Subpopulation as a Predictive Biomarker of Disease Activity in Multiple Sclerosis Patients under Dimethyl Fumarate or Fingolimod Treatment by Bibiana Quirant-Sánchez, Silvia Presas-Rodriguez, María José Mansilla, Aina Teniente-Serra, José V. Hervás-García, Luis Brieva, Ester Moral-Torres, Antonio Cano, Elvira Munteis, Juan Navarro-Barriuso, Eva M. Martínez-Cáceres, Cristina Ramo-Tello

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