Works matching IS 2324-9269 AND VI 12 AND IP 1 AND DT 2024


Results: 79
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    Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
    By:
    • Ruault, Valentin;
    • Burger, Pauline;
    • Gradels‐Hauguel, Johanna;
    • Ruiz, Nathalie;
    • Jamra, Rami Abou;
    • Afenjar, Alexandra;
    • Alembik, Yves;
    • Alessandri, Jean‐Luc;
    • Arpin, Stéphanie;
    • Barcia, Giulia;
    • Bendová, Šárka;
    • Bruel, Ange‐Line;
    • Charles, Perrine;
    • Chatron, Nicolas;
    • Chopra, Maya;
    • Conrad, Solène;
    • Daire, Valérie Cormier;
    • Cospain, Auriane;
    • Coubes, Christine;
    • Coursimault, Juliette
    Publication type:
    Article
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    Newly discovered variants in unexplained neonatal encephalopathy.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2354
    By:
    • Zhang, Rong;
    • Xie, Jingjing;
    • Yuan, Xiao;
    • Yu, Yan;
    • Zhuang, Yan;
    • Zhang, Fan;
    • Hou, Jianfei;
    • Liu, Yanqin;
    • Huang, Weiqing;
    • Zhang, Min;
    • Li, Junshuai;
    • Gong, Qiang;
    • Peng, Xiaoming
    Publication type:
    Article
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    A Chinese patient with Rothmund–Thomson syndrome.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2347
    By:
    • Zeng, Juan;
    • Li, Jiayi;
    • Liu, Yuwei;
    • Liang, Rui;
    • Wang, Lin;
    • Zhou, Qing;
    • Sun, Jinghua;
    • Liu, Zhongzhen;
    • Wang, Wen‐Jing;
    • Zhu, Sujun
    Publication type:
    Article
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    Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2332
    By:
    • Alonso‐Luna, Oscar;
    • Mercado‐Celis, Gabriela E.;
    • Melendez‐Zajgla, Jorge;
    • Barquera, Rodrigo;
    • Zapata‐Tarres, Marta;
    • Juárez‐Villegas, Luis Enrique;
    • Mendoza‐Caamal, Elvia Cristina;
    • Rey‐Helo, Elianeth;
    • Borges‐Yañez, Socorro Aida
    Publication type:
    Article
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    Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2316
    By:
    • Rosina, Erica;
    • Pezzani, Lidia;
    • Apuril, Erika;
    • Pezzoli, Laura;
    • Marchetti, Daniela;
    • Bellini, Matteo;
    • Lucca, Camilla;
    • Meossi, Camilla;
    • Massimello, Marta;
    • Mariani, Milena;
    • Scatigno, Agnese;
    • Cattaneo, Elisa;
    • Colombo, Lorenzo;
    • Maitz, Silvia;
    • Cereda, Anna;
    • Milani, Donatella;
    • Spaccini, Luigina;
    • Bedeschi, Maria Francesca;
    • Selicorni, Angelo;
    • Iascone, Maria
    Publication type:
    Article
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