Search Results - "phenotyping"

Exploring the Prevalence of Oral Features for Early Detection of PTEN Hamartoma Tumour Syndrome by Ane J. Schei-Andersen, Bart van Oirschot, Meggie M.C.M. Drissen, Jolanda Schieving, Janneke H.M. Schuurs-Hoeijmakers, Janet R. Vos, Claire M. Barton, Nicoline Hoogerbrugge

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Hypomyelinating Leukodystrophy 8 (HLD8)-Associated Mutation of POLR3B Leads to Defective Oligodendroglial Morphological Differentiation Whose Effect Is Reversed by Ibuprofen by Sui Sawaguchi, Rimi Suzuki, Hiroaki Oizumi, Katsuya Ohbuchi, Kazushige Mizoguchi, Masahiro Yamamoto, Yuki Miyamoto, Junji Yamauchi

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Epithelial-mesenchymal transition and stem cells in colorectal cancer progression by M. A. Shyshkin, T. O. Khrystenko

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Chromosome 22q11.2 deletion: world definition criteria, standards for diagnosis and monitoring by M.A. Gonchar, O.L. Logvinova, A.I. Strashok, N.V. Konovalova, D.A. Ivakhnenko

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AZU1 (HBP/CAP37) and PRKCG (PKC-gamma) may be candidate genes affecting the severity of acute mountain sickness by Zhichao Xu, Qiong Li, Xiaobing Shen

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Diagnostic difficulties and possibilities of NF1-like syndromes in childhood by Eva Pinti, Krisztina Nemeth, Krisztina Staub, Anna Lengyel, Gyorgy Fekete, Iren Haltrich

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Role of TRPV3 in immune response to development of dermatitis by Hirasawa Tsutomu, Yoshioka Takeshi, Imura Kinichi, Sakata Tsuneaki

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A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy by Ya-Su Lyu, Pei-liang Shi, Xiao-Ling Chen, Yue-Xiao Tang, Yan-Fang Wang, Rong-Rong Liu, Xiao-Rui Luan, Yu Fang, Ru-Huan Mei, Zhen-Fang Du, Hai-Ping Ke, Erik Matro, Ling-En Li, Zhao-Yu Lin, Jing Zhao, Xiang Gao, Xian-Ning Zhang

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A novel Drosophila model of TDP-43 proteinopathies: N-terminal sequences combined with the Q/N domain induce protein functional loss and locomotion defects by Simona Langellotti, Valentina Romano, Giulia Romano, Raffaella Klima, Fabian Feiguin, Lucia Cragnaz, Maurizio Romano, Francisco E. Baralle

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Differences between Trypanosoma brucei gambiense groups 1 and 2 in their resistance to killing by trypanolytic factor 1. by Paul Capewell, Nicola J Veitch, C Michael R Turner, Jayne Raper, Matthew Berriman, Stephen L Hajduk, Annette MacLeod

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ICU Patients' Antibiotic Exposure and Triazole-Resistance in Invasive Candidiasis: Parallel Analysis of Aggregated and Individual Data by Yan Wang, Yan Wang, Yan Wang, Ying Zhang, Treasure M. McGuire, Treasure M. McGuire, Treasure M. McGuire, Samantha A. Hollingworth, Mieke L. Van Driel, Lu Cao, Xue Wang, Yalin Dong

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M2 polarization enhances silica nanoparticle uptake by macrophages by Jessica eHoppstädter, Michelle eSeif, Anna eDembek, Christian eCavelius, Hanno eHuwer, Annette eKraegeloh, Alexandra K Kiemer

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Intrinsic cardiorespiratory fitness modulates clinical and molecular response to caloric restriction by Johanna Y. Fleischman, Nathan R. Qi, Mary K. Treutelaar, Steven L. Britton, Lauren G. Koch, Jun Z. Li, Charles F. Burant

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Inflammation altered correlation between CYP2C19 genotype and CYP2C19 activity in patients receiving voriconazole by Sylvia D. Klomp, Anette Veringa, Jan‐Willem C. Alffenaar, Mark G. J. deBoer, Lambert F. R. Span, Henk‐Jan Guchelaar, Jesse J. Swen

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Morphology, immunohistochemistry characteristics, and clinical presentation of microcystic urothelial carcinoma: a series of 10 cases by Wenjing Su, Wenwen Sui, Xiankui Cheng, Yuanyuan Zong, Yejun Qin, Fengyun Cui

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Adipose tissue (P)RR regulates insulin sensitivity, fat mass and body weight by Zulaykho Shamansurova, Paul Tan, Basma Ahmed, Emilie Pepin, Ondrej Seda, Julie L. Lavoie

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The Parkinson's disease-associated protein DJ-1 plays a positive nonmitochondrial role in endocytosis in Dictyostelium cells by Suwei Chen, Sarah J. Annesley, Rasha A. F. Jasim, Vanessa J. Musco, Oana Sanislav, Paul R. Fisher

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Adipocyte-specific tribbles pseudokinase 1 regulates plasma adiponectin and plasma lipids in mice by Elizabeth E. Ha, Gabriella I. Quartuccia, Ruifeng Ling, Chenyi Xue, Rhoda A. Karikari, Antonio Hernandez-Ono, Krista Y. Hu, Caio V. Matias, Rami Imam, Jian Cui, Natalia S. Pellegata, Stephan Herzig, Anastasia Georgiadi, Rajesh K. Soni, Robert C. Bauer

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Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene by Zhouxian Bai, Gaopan Li, Xiangdong Kong

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Mitochondrial double-stranded RNAs as a pivotal mediator in the pathogenesis of Sjӧgren's syndrome by Jimin Yoon, Minseok Lee, Ahsan Ausaf Ali, Ye Rim Oh, Yong Seok Choi, Sujin Kim, Namseok Lee, Se Gwang Jang, Seonghyeon Park, Jin-Haeng Chung, Seung-Ki Kwok, Joon Young Hyon, Seunghee Cha, Yun Jong Lee, Sung Gap Im, Yoosik Kim

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