Search Results - "phenotyping"

Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling and literature review by Chih-Ping Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Dai-Dyi Town, Wayseen Wang

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss by Guangxian Yang, Yi Yin, Zhiping Tan, Jian Liu, Xicheng Deng, Yifeng Yang

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The role of mesenchymal stem cells in peripheral nerve regeneration by N. M. Nevmerzhytska, L. M. Yaremenko, O. M. Grabovyi

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Imbalance in PB IL-17-Secreting and Regulatory Cells in Pars Planitis Is Associated with Dysregulation of IFN-γ-Secreting Cells, Especially in Patients with Clinical Complications by Agata Kosmaczewska, Joanna Przeździecka-Dołyk, Anna Turno-Kręcicka, Lidia Ciszak, Aleksandra Szteblich, Agnieszka Węgrzyn, Irena Frydecka, Marta Misiuk-Hojło

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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-relat... by Merlini Luciano, Bertini Enrico, Mercuri Eugenio, Grumati Paolo, Fabris Marina, Sabatelli Patrizia, Urciuolo Anna, Martoni Elena, Neri Marcella, Bovolenta Matteo, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca

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Oral exploration and food selectivity: A case-control study conducted in a multidisciplinary outpatient setting by Marc Bellaïche, Véronique Leblanc, Jérôme Viala, Camille Jung

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Nucleoli cytomorphology in cutaneous melanoma cells - a new prognostic approach to an old concept by Piotr Donizy, Przemyslaw Biecek, Agnieszka Halon, Adam Maciejczyk, Rafal Matkowski

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Using innovative narrative therapies with children who witness intimate partner violence by Prahbhjot Malhi, Bhavneet Bharti

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Large effects on body mass index and insulin resistance of fat mass and obesity associated gene <it>(FTO) </it>variants in patients with polycystic ovary syndrome (PCOS) by Kimmig Rainer, Vogel Carla, Grallert Harald, Scherag Susann, Dietz Tiina, Lahner Harald, Hahn Susanne, Janssen Onno, Scherag André, Tan Susanne, Illig Thomas, Mann Klaus, Hebebrand Johannes, Hinney Anke

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Association between high-mobility group box 2 and subclinical hypertension-mediated organ damage in young adults by Jindong Wan, Gang Liu, Siwei Xia, Sen Liu, Yi Yang, Dan Wang, Jixin Hou, Xiaozhen Dai, Peng Zhou, Peijian Wang

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Management and Clinical Outcomes of Membranous Nephropathy, IgA Nephropathy, and Minimal Change Disease Two Years Post-Kidney Biopsy by Xiaojiao Guo, Xuan Tie, Yuyu Zhang, Yemei Dai, Shulei Yao, Xi Qiao, Lihua Wang, Xiaole Su

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<i>In Vitro</i> Antibacterial Activity of Microbial Natural Products against Bacterial Pathogens of Veterinary and Zoonotic Relevance by Stefanie A. Barth, Daniel Preussger, Jana Pietschmann, Andrea T. Feßler, Martin Heller, Werner Herbst, Christiane Schnee, Stefan Schwarz, Florian Kloss, Christian Berens, Christian Menge

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Footprint of positive selection in Treponema pallidum subsp. pallidum genome sequences suggests adaptive microevolution of the syphilis pathogen. by Lorenzo Giacani, Sujay Chattopadhyay, Arturo Centurion-Lara, Brendan M Jeffrey, Hoavan T Le, Barbara J Molini, Sheila A Lukehart, Evgeni V Sokurenko, Daniel D Rockey

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Pharmacological antagonism of the incretin system protects against diet-induced obesity by Berit Svendsen, Megan E. Capozzi, Jingjing Nui, Sarah A. Hannou, Brian Finan, Jacqueline Naylor, Peter Ravn, David A. D'Alessio, Jonathan E. Campbell

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Development of a High-Resolution Melting Method for the Detection of Clarithromycin-Resistant <i>Helicobacter pylori</i> in the Gastric Microbiome by Zupeng Kuang, Huishu Huang, Ling Chen, Yanyan Shang, Shixuan Huang, Jun Liu, Jianhui Chen, Xinqiang Xie, Moutong Chen, Lei Wu, He Gao, Hui Zhao, Ying Li, Qingping Wu

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Keap1-Nrf2 Heterodimer: A Therapeutic Target to Ameliorate Sickle Cell Disease by Waseem Chauhan, Rahima Zennadi

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IMMUNITY SYSTEM AFTER EXTENDED SURGERIES IN PATIENTS WITH LOCALLY ADVANCED STOMACH CANCER by I.I. ЕNА, А.А. AKHETOV, N.A. SHANAZAROV, N.K. SEYDALIN

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Safety and efficacy of biologic immunosuppressive treatment in juvenile idiopathic arthritis associated with inborn errors of immunity by V. Accardo, I. Pagnini, I. Maccora, E. Marrani, M. V. Mastrolia, G. Simonini

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Vasculitis in Systemic Autoinflammatory Diseases by Selcan Demir, Erdal Sag, Fatma Dedeoglu, Seza Ozen

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Time associations between U.S. birth rates and add-Ons to IVF practice between 2005-2016 by Norbert Gleicher, Lyka Mochizuki, David H. Barad

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