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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    Sodium azide mutagenesis induces a unique pattern of mutations.

    Published in:
    PLoS Genetics, 2025, v. 21, n. 6, p. 1, doi. 10.1371/journal.pgen.1011634
    By:
    • Liu, Chaochih;
    • Frascarelli, Giulia;
    • Stec, Adrian O.;
    • Heinen, Shane;
    • Lei, Li;
    • Wyant, Skylar R.;
    • Legg, Erik;
    • Spiller, Monika;
    • Muehlbauer, Gary J.;
    • Smith, Kevin P.;
    • Fay, Justin C.;
    • Morrell, Peter L.
    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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    TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00501-8
    By:
    • de Andrade, Kelvin César;
    • Pinto, Emilia M.;
    • Zhao, Tianna;
    • Zeigler, Logan P.;
    • Kim, Jung;
    • Giri, Neelam;
    • Haley, Jeremy S.;
    • McReynolds, Lisa J.;
    • Florez-Vargas, Oscar;
    • Phillips, Aaron H.;
    • Kriwacki, Richard W.;
    • Akinniyi, Sherifa A.;
    • Cohen, Scott B.;
    • Emerson, Matthew R.;
    • Smelser, Diane T.;
    • Urban, Gretchen M.;
    • Fridman, Cintia;
    • Zambetti, Gerard P.;
    • Bryan, Tracy M.;
    • Carey, David J.
    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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