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    An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma by Michele Massimino, Elena Tirrò, Stefania Stella, Cristina Tomarchio, Sebastiano Di Bella, Silvia Rita Vitale, Chiara Conti, Marialuisa Puglisi, Rosa Maria Di Crescenzo, Silvia Varricchio, Francesco Merolla, Giuseppe Broggi, Federica Martorana, Alice Turdo, Miriam Gaggianesi, Livia Manzella, Andrea Russo, Giorgio Stassi, Rosario Caltabiano, Stefania Staibano, Paolo Vigneri

    Published 2025-01-01
    “…Methods: Following the findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (<i>CYSLTR2</i>, <i>GNA11</i>, <i>GNAQ</i> and <i>PLCB4</i>), prognostic alterations (<i>BAP1</i>, <i>EIF1AX</i>, <i>SF3B1</i> and <i>SRSF2</i>), emergent biomarkers (<i>CDKN2A</i>, <i>CENPE</i>, <i>FOXO1</i>, <i>HIF1A</i>, <i>RPL5</i> and <i>TP53</i>) and chromosomal abnormalities (imbalances in chromosomes 1, 3 and 8). …”
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    Sleep in Genetically Confirmed Pantothenate Kinase-Associated Neurodegeneration: A Video-Polysomnographic Study by Maria Livia Fantini, Giovanni Cossu, Andrea Molari, Monia Cabinio, Ozlem Uyanik, Roberto Cilia, Maurizio Melis, Angelo Antonini, Luigi Ferini-Strambi

    Published 2010-01-01
    “…A mutation of pantothenate kinase (PANK2) gene localized on chromosome 20p13 has been described in familiar forms, as well as in sporadic patients. …”
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    AMERİKAN ‘HÜKÜMETİN YENİDEN KEŞFİ’ (‘REINVENTING GOVERNMENT’) REFORMU ÜZERİNE GENEL BİR DEĞERLENDİRME by Orhan GÖKÇE, Önder KUTLU

    Published 2002-06-01
    “…Bu bağlamda bu çalışma HYK reformunu genel olarak irdeleyerek Türk kamu yönetiminin yeniden yapılandırılması konusunda genel bir çerçeve oluşturma amacı gütmektedir.…”
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    Ultra-processed food intake, genetic polymorphisms, and the risk of dyslipidemia in the adult Korean population by Minsu Cho, Heejin Lee, Jung Eun Lee

    “…There was no interaction by dyslipidemia-related genetic variations; ORs (95% CIs) were 1.04 (0.89, 1.22; p for trend=0.91) and 0.98 (0.84, 1.15; p for trend=0.72) for individuals with high and low polygenic scores, respectively (p for interaction=0.90). …”
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    A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth by Lumbini Pathivada, Munagala Karthik Krishna, Mandeep Rallan

    Published 2016-01-01
    “…Lacrimo-auriculo-dento-digital (LADD) syndrome is an extremely rare disorder which may occur sporadically or inheritably as an autosomal dominant condition. …”
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    Luciérnagas (Coleoptera: Lampyridae) en sitios de avistamiento del centro de México by Ishwari G. Gutiérrez-Carranza, Daniel E. Domínguez-León

    Published 2025-01-01
    “…Desde el año 2021 se han muestreado 17 localidades pertenecientes a cinco estados del centro de México. Aquí se listan las 16 especies que se han identificado en los sitios de observación, incluida su distribución conocida y se aportan cuatro nuevos registros estatales.…”
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    Panorama urbano de la exclusión social, poder, clase y género en las calles de la Ciudad de México. Siglo XIX by Miguel Orduña Carson

    Published 2013-01-01
    “…El presente artículo revisa conflictos de clase y de género en la definición de los usos cotidianos de las calles de la Ciudad de México del siglo XIX, conflictos que exponen y explican las diversas formas de la exclusión social. …”
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