Works matching IS 17574676 AND DT 2025 AND VI 17 AND IP 1


Results: 12
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    Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

    Published in:
    EMBO Molecular Medicine, 2025, v. 17, n. 1, p. 129, doi. 10.1038/s44321-024-00178-z
    By:
    • Bayam, Efil;
    • Tilly, Peggy;
    • Collins, Stephan C;
    • Rivera Alvarez, José;
    • Kannan, Meghna;
    • Tonneau, Lucile;
    • Brivio, Elena;
    • Rinaldi, Bruno;
    • Lecat, Romain;
    • Schwaller, Noémie;
    • Cotellessa, Ludovica;
    • Maddirevula, Sateesh;
    • Monteiro, Fabiola;
    • Guardia, Carlos M;
    • Kitajima, João Paulo;
    • Kok, Fernando;
    • Kato, Mitsuhiro;
    • Hamed, Ahlam A A;
    • Salih, Mustafa A;
    • Al Tala, Saeed
    Publication type:
    Article
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    Navigating from cellular phenotypic screen to clinical candidate: selective targeting of the NLRP3 inflammasome.

    Published in:
    EMBO Molecular Medicine, 2025, v. 17, n. 1, p. 54, doi. 10.1038/s44321-024-00181-4
    By:
    • Matico, Rosalie;
    • Grauwen, Karolien;
    • Chauhan, Dhruv;
    • Yu, Xiaodi;
    • Abdiaj, Irini;
    • Adhikary, Suraj;
    • Adriaensen, Ine;
    • Aranzazu, Garcia Molina;
    • Alcázar, Jesus;
    • Bassi, Michela;
    • Brisse, Ellen;
    • Cañellas, Santiago;
    • Chaudhuri, Shubhra;
    • Delgado, Francisca;
    • Diéguez-Vázquez, Alejandro;
    • Du Jardin, Marc;
    • Eastham, Victoria;
    • Finley, Michael;
    • Jacobs, Tom;
    • Keustermans, Ken
    Publication type:
    Article
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    Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

    Published in:
    EMBO Molecular Medicine, 2025, v. 17, n. 1, p. 193, doi. 10.1038/s44321-024-00172-5
    By:
    • Van Haute, Lindsey;
    • Páleníková, Petra;
    • Tang, Jia Xin;
    • Nash, Pavel A;
    • Simon, Mariella T;
    • Pyle, Angela;
    • Oláhová, Monika;
    • Powell, Christopher A;
    • Rebelo-Guiomar, Pedro;
    • Stover, Alexander;
    • Champion, Michael;
    • Deshpande, Charulata;
    • Baple, Emma L;
    • Stals, Karen L;
    • Ellard, Sian;
    • Anselem, Olivia;
    • Molac, Clémence;
    • Petrilli, Giulia;
    • Loeuillet, Laurence;
    • Grotto, Sarah
    Publication type:
    Article
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