Works matching DE "GENETIC variation"

Results: 5000
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    Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2046, doi. 10.1111/epi.18346
    By:
    • Rong, Marlene;
    • Marques, Paula T.;
    • Ali, Quratulain Zulfiqar;
    • Morcos, Ricardo;
    • Chandran, Ilakkiah;
    • Qaiser, Farah;
    • Møller, Rikke S.;
    • Bayat, Allan;
    • Rubboli, Guido;
    • Gardella, Elena;
    • Reuter, Miriam S.;
    • Sands, Tristan T.;
    • Scheffer, Ingrid E.;
    • Schneider, Amy;
    • Poduri, Annapurna;
    • Wirrell, Elaine;
    • Nabbout, Rima;
    • Sullivan, Joseph;
    • Valente, Kette;
    • Auvin, Stéphane
    Publication type:
    Article
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    Clinical, Phenotypic and Genotypic Characteristics of Von Willebrand Disease in Afro‐Caribbeans: Results From a Study in Martinique Island, French West Indies.

    Published in:
    Haemophilia, 2025, v. 31, n. 3, p. 458, doi. 10.1111/hae.70003
    By:
    • Dubois, Marie‐Daniéla;
    • Pierre‐Louis, Olivier Nicolas;
    • Pierre‐Louis, Serge;
    • Boisseau, Pierre;
    • Denis, Cécile V.;
    • Dupont, Annabelle;
    • Goudemand, Jenny;
    • Casari, Caterina;
    • Jeanpierre, Emmanuelle;
    • Zawadzki, Christophe;
    • Ferrey, Béatrice;
    • Rabout, Johalène;
    • Fuseau, Pascal;
    • Chonville, Emelyne;
    • Michel, Franck;
    • Yerro, Marie‐Nadiège;
    • Gruel, Yves;
    • Christophe, Olivier;
    • Lenting, Peter J.;
    • Janky, Eustase
    Publication type:
    Article
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    In‐frame insertions of SOX10 are highly enriched and characterize a distinct transcriptomic profile in gastrointestinal schwannomas.

    Published in:
    Journal of Pathology, 2025, v. 266, n. 3, p. 268, doi. 10.1002/path.6426
    By:
    • Lee, Pei‐Hang;
    • Huang, Shih‐Chiang;
    • Lee, Jen‐Chieh;
    • Li, Sung‐Chou;
    • Tsai, Jen‐Wei;
    • Chang, Yi‐Ming;
    • Kao, Yu‐Chien;
    • Fan, Wen‐Lang;
    • Chang, Ching‐Di;
    • Chen, Hui‐Chun;
    • Li, Chih‐Hao;
    • Hu, Chia‐Fa;
    • Liu, Ting‐Ting;
    • Wu, Pao‐Shu;
    • Nam, Mann‐Hua;
    • Yu, Shih‐Chen;
    • Wang, Jui‐Chu;
    • Huang, Hsuan‐Ying
    Publication type:
    Article
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    Autosomal dominant myopathy caused by a novel ISCU variant.

    Published in:
    Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1605440
    By:
    • Rusecka, Joanna M.;
    • Ceccatelli Berti, Camilla;
    • Szczęśniak, Dominika;
    • Bednarska-Makaruk, Małgorzata;
    • Mroczek, Magdalena;
    • Kacprzak, Magdalena M.;
    • Sobczyńska-Tomaszewska, Agnieszka;
    • Goffrini, Paola
    Publication type:
    Article
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    Improved Prediction of CYP2D6 Catalyzed Drug Metabolism by Taking Variant Substrate Specificities and Novel Polymorphic Haplotypes into Account.

    Published in:
    Clinical Pharmacology & Therapeutics, 2025, v. 118, n. 1, p. 218, doi. 10.1002/cpt.3680
    By:
    • Johansson, Inger;
    • Xanthopoulou, Emmanouella M.;
    • Zhou, Yitian;
    • Sanchez‐Spitman, Anabel;
    • van der Lee, Maaike;
    • Wollmann, Birgit M.;
    • Størset, Elisabet;
    • Swen, Jesse J.;
    • Guchelaar, Henk‐Jan;
    • Molden, Espen;
    • Jukic, Marin M.;
    • Ingelman‐Sundberg, Magnus
    Publication type:
    Article
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    Morphological and agronomic characterization of pigmented corn races.

    Published in:
    Agro Productividad, 2025, v. 18, n. 4, p. 199, doi. 10.32854/h38zjr61
    By:
    • Hidalgo-Ramos, Dreyli M.;
    • Rodríguez-Herrera, Sergio A.;
    • Palacios-Rojas, Natalia;
    • Lozano-del-Río, Alejandro;
    • García-Osuna, Hermila Trinidad;
    • López-Benítez, Alfonso;
    • Mancera-Rico, Arturo
    Publication type:
    Article
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