Works matching DE "GENETIC testing

Results: 5000
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    An integrative systems-biology approach defines mechanisms of Alzheimer's disease neurodegeneration.

    Published in:
    Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59654-w
    By:
    • Leventhal, Matthew J.;
    • Zanella, Camila A.;
    • Kang, Byunguk;
    • Peng, Jiajie;
    • Gritsch, David;
    • Liao, Zhixiang;
    • Bukhari, Hassan;
    • Wang, Tao;
    • Pao, Ping-Chieh;
    • Danquah, Serwah;
    • Benetatos, Joseph;
    • Nehme, Ralda;
    • Farhi, Samouil;
    • Tsai, Li-Huei;
    • Dong, Xianjun;
    • Scherzer, Clemens R.;
    • Feany, Mel B.;
    • Fraenkel, Ernest
    Publication type:
    Article
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    VEXAS Syndrome: An Overlooked Threat.

    Published in:
    Balkan Medical Journal, 2025, v. 42, n. 3, p. 185, doi. 10.4274/balkanmedj.galenos.2025.2025-170425
    By:
    • Uğurlu, Serdal;
    • Kılıç, Berkay
    Publication type:
    Article
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    Genetic Counselling, Testing, and Management of Hereditary Breast and Ovarian Cancer Syndrome in India: Updated Expert Consensus Recommendations from Indian Society of Medical and Pediatric Oncology.

    Published in:
    Indian Journal of Medical & Paediatric Oncology, 2025, v. 46, n. 3, p. 233, doi. 10.1055/s-0044-1788727
    By:
    • Malhotra, Hemant;
    • Pramanik, Raja;
    • Srinivas, Sujay;
    • Kotwal, Pradyna;
    • Mehra, Nikita;
    • Gupta, Sudeep;
    • Rajkumar, Thangarajan;
    • Sarin, Rajiv;
    • Kanakasetty, Govind Babu;
    • Bapna, Ajay;
    • Smruti, B. K.;
    • Sekhon, Rupinder;
    • Basade, Maheboob;
    • Gupta, Sabhayata;
    • Maheshwari, Amita;
    • Somashekhar, S. P.;
    • Kadayaprath, Geeta;
    • Krishnamurthy, Arvind;
    • Punia, Anushree;
    • Suryavanshi, Moushumi
    Publication type:
    Article
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    TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6
    By:
    • Saier, Christina;
    • Sansen, Stefaan;
    • Berghout, Joanne;
    • Freyler, Kathrin;
    • Einhorn, Moshe;
    • Einhorn, Yaron;
    • Matalonga, Leslie;
    • Beltran, Sergi;
    • Novelli, Antonio;
    • Selvatici, Rita;
    • Fortunato, Fernanda;
    • Montanari, Silvia;
    • Martinez-Fresno, Maria;
    • Gumus, Gulcin;
    • Agolini, Emanuele;
    • Garnier, Nicolas;
    • Ferlini, Alessandra;
    • Bertini, Enrico;
    • Kirschner, Janbernd
    Publication type:
    Article
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    Rare and low-frequency variants in families with otitis media.

    Published in:
    Journal of Molecular Medicine, 2025, v. 103, n. 5, p. 559, doi. 10.1007/s00109-025-02537-w
    By:
    • Santos-Cortez, Regie Lyn P.;
    • Elling, Christina L.;
    • Gomez, Helen Z.;
    • Einarsdottir, Elisabet;
    • Kere, Juha;
    • Mattila, Petri S.;
    • Hafrén, Lena;
    • Ryan, Allen F.
    Publication type:
    Article
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