Works matching DE "GENETIC variation"


Results: 5000
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    Rare variants modulating phenotype in NF1 carriers.

    Published in:
    Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-09751-z
    By:
    • Pasquinelli, Elena;
    • Casamassima, Giulia;
    • Brunelli, Giulia;
    • Belakhdar, Omaima;
    • Minetto, Samantha;
    • Grosso, Salvatore;
    • Canitano, Roberto;
    • Marsili, Stefania;
    • Martellucci, Ignazio;
    • Miano, Salvadora Tindara;
    • Petrioli, Roberto;
    • Baldassarri, Margherita;
    • D'Aurizio, Romina;
    • Fallerini, Chiara;
    • Renieri, Alessandra
    Publication type:
    Article
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    Bridging the gap in obesity research: A consensus statement from the European Society for Clinical Investigation.

    Published in:
    European Journal of Clinical Investigation, 2025, v. 55, n. 8, p. 1, doi. 10.1111/eci.70059
    By:
    • Carbone, Federico;
    • Després, Jean‐Pierre;
    • Ioannidis, John P. A.;
    • Neeland, Ian J.;
    • Garruti, Gabriella;
    • Busetto, Luca;
    • Liberale, Luca;
    • Ministrini, Stefano;
    • Vilahur, Gemma;
    • Schindler, Thomas H.;
    • Macedo, Maria Paula;
    • Di Ciaula, Agostino;
    • Krawczyk, Marcin;
    • Geier, Andreas;
    • Baffy, Gyorgy;
    • Faienza, Maria Felicia;
    • Farella, Ilaria;
    • Santoro, Nicola;
    • Frühbeck, Gema;
    • Yárnoz‐Esquiroz, Patricia
    Publication type:
    Article
    5

    Deep Learning Discovers New Morphological Features while Predicting Genetic Alterations from Histopathology of Papillary Thyroid Carcinoma.

    Published in:
    Thyroid, 2025, v. 35, n. 7, p. 771, doi. 10.1089/thy.2024.0691
    By:
    • Marion, Ingrid;
    • Schulz, Stefan;
    • Glasner, Christina;
    • Kather, Jakob Nikolas;
    • Truhn, Daniel;
    • Eckstein, Markus;
    • Mueller, Celine;
    • Fernandez, Aurélie;
    • Marquard, Simone;
    • Oliver Metzig, Marie;
    • Roth, Wilfried;
    • Gaida, Matthias Martin;
    • Strobl, Stephanie;
    • Wagner, Daniel-Christoph;
    • Schad, Arno;
    • Jesinghaus, Moritz;
    • Hartmann, Nils;
    • Musholt, Thomas Johannes;
    • Staubitz-Vernazza, Julia I.;
    • Foersch, Sebastian
    Publication type:
    Article
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    A Sustainable Approach to Phosphorus Nutrition in Banana Plantations.

    Published in:
    Plants (2223-7747), 2025, v. 14, n. 13, p. 1923, doi. 10.3390/plants14131923
    By:
    • Cândido, Hebert Teixeira;
    • Leonel, Magali;
    • Leonel, Sarita;
    • Fernandes, Adalton Mazetti;
    • Souza, Jackson Myrellis Azevêdo;
    • dos Ouros, Lucas Felipe;
    • de Jesus, Paulo Ricardo Rodrigues
    Publication type:
    Article
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    A New High Penetrant Intronic Pathogenic Variant Related to Long QT Syndrome Type 2.

    Published in:
    Journal of Clinical Medicine, 2025, v. 14, n. 13, p. 4646, doi. 10.3390/jcm14134646
    By:
    • Rodríguez-Junquera, Manuel;
    • Alén, Alberto;
    • González-Urbistondo, Francisco;
    • Rodríguez-Reguero, José Julián;
    • Fernández, Bárbara;
    • Álvarez-Velasco, Rut;
    • Vazquez-Coto, Daniel;
    • Vega-Prado, Lorena M.;
    • Avanzas, Pablo;
    • Coto, Eliecer;
    • Gómez, Juan;
    • Lorca, Rebeca
    Publication type:
    Article
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    Interplay between large low-recombining regions and pseudo-overdominance in a plant genome.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61529-z
    By:
    • Salson, Marine;
    • Duranton, Maud;
    • Huynh, Stella;
    • Mariac, Cédric;
    • Tranchant-Dubreuil, Christine;
    • Orjuela, Julie;
    • Cubry, Philippe;
    • Thuillet, Anne-Céline;
    • Burgarella, Concetta;
    • de Navascués, Miguel;
    • Zekraouï, Leïla;
    • Couderc, Marie;
    • Arribat, Sandrine;
    • Rodde, Nathalie;
    • Barnaud, Adeline;
    • Faye, Adama;
    • Kane, Ndjido;
    • Vigouroux, Yves;
    • Berthouly-Salazar, Cécile
    Publication type:
    Article
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    Novel Genetic Variants Associated with Diabetic Neuropathy Risk in Type 2 Diabetes: A Whole-Exome Sequencing Approach.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6239, doi. 10.3390/ijms26136239
    By:
    • Hajdú, Noémi;
    • Tordai, Dóra Zsuzsanna;
    • Rácz, Ramóna;
    • Ludvig, Zsófia;
    • Istenes, Ildikó;
    • Békeffy, Magdolna;
    • Vági, Orsolya Erzsébet;
    • Körei, Anna Erzsébet;
    • Tóbiás, Bálint;
    • Illés, Anett;
    • Pikó, Henriett;
    • Kósa, János P.;
    • Árvai, Kristóf;
    • Lakatos, Péter András;
    • Kempler, Péter;
    • Putz, Zsuzsanna
    Publication type:
    Article
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