Works matching DE "WHOLE genome sequencing"


Results: 5000
    1

    The genetic landscape of pediatric postural orthostatic tachycardia syndrome.

    Published in:
    Clinical Autonomic Research, 2025, v. 35, n. 3, p. 431, doi. 10.1007/s10286-025-01110-2
    By:
    • Qu, Huiqi;
    • Qu, Jingchun;
    • Chang, Xiao;
    • Williams, Nolan;
    • Mentch, Frank;
    • Snyder, James;
    • Lemma, Maria;
    • Nguyen, Kenny;
    • Behr, Meckenzie;
    • March, Michael;
    • Connolly, John;
    • Glessner, Joseph;
    • Boris, Jeffrey R.;
    • Hakonarson, Hakon
    Publication type:
    Article
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    Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.

    Published in:
    Respirology, 2025, v. 30, n. 6, p. 523, doi. 10.1111/resp.70039
    By:
    • Franco, Giovanni;
    • Ba, Ibrahima;
    • Nathan, Nadia;
    • Guerin, Cécile;
    • Lassus, Albane;
    • Kannengiesser, Caroline;
    • Froidure, Antoine;
    • Manali, Effrosyni;
    • Bunel, Vincent;
    • Bonniaud, Philippe;
    • Bouvry, Diane;
    • Debray, Marie Pierre;
    • Juge, Pierre Antoine;
    • Epaud, Ralph;
    • Louvrier, Camille;
    • Plessier, Aurélie;
    • de Fontbrune, Flore Sicre;
    • Wémeau‐Stervinou, Lidwine;
    • Adam, Sylvain Marchand;
    • Chabrol, Alexandre
    Publication type:
    Article
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    Acute Respiratory and Influenza Viruses Circulating in Kazakhstan During 2018–2024.

    Published in:
    Pathogens, 2025, v. 14, n. 5, p. 493, doi. 10.3390/pathogens14050493
    By:
    • Glebova, Tatyana;
    • Klivleyeva, Nailya;
    • Baimukhametova, Assem;
    • Lukmanova, Galina;
    • Saktaganov, Nurbol;
    • Ongarbayeva, Nuray;
    • Baimakhanova, Baiken;
    • Kassymova, Gulmira;
    • Sagatova, Madisha;
    • Rachimbayeva, Almagul;
    • Zhanuzakova, Nazgul;
    • Naidenova, Tatyana;
    • Rakhmonova, Nigina;
    • Webby, Richard
    Publication type:
    Article
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    First Report of Streptococcus agalactiae Meningitis in a Non-Pregnant Adult in Italy.

    Published in:
    Microorganisms, 2025, v. 13, n. 5, p. 978, doi. 10.3390/microorganisms13050978
    By:
    • Borriello, Giorgia;
    • Fusco, Giovanna;
    • Greco, Francesca;
    • Mauro, Maria Vittoria;
    • Barca, Lorella;
    • Limone, Antonio;
    • Garzi Cosentino, Maria;
    • Campione, Agata;
    • Rinaldi, Antonio;
    • Dodaro, Saveria;
    • De Carlo, Esterina;
    • Greco, Sonia;
    • Vangeli, Valeria;
    • Paradiso, Rubina;
    • Mastroianni, Antonio
    Publication type:
    Article
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    Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524
    By:
    • Männistö, Jonna M E;
    • Hopkins, Jasmin J;
    • Hewat, Thomas I;
    • Nasser, Fatima;
    • Burrage, Joseph;
    • Dastamani, Antonia;
    • Mirante, Alice;
    • Murphy, Nuala;
    • Rzasa, Jessica;
    • Kerkhof, Jennifer;
    • Relator, Raissa;
    • Johnson, Matthew B;
    • Laver, Thomas W;
    • Weymouth, Luke;
    • Houghton, Jayne A L;
    • Wakeling, Matthew N;
    • Sadikovic, Bekim;
    • Dempster, Emma L;
    • Flanagan, Sarah E
    Publication type:
    Article
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