Works matching AU Parker, Michael


Results: 504
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    'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 4, p. 465, doi. 10.1002/pd.6537
    By:
    • McInnes‐Dean, Hannah;
    • Mellis, Rhiannon;
    • Daniel, Morgan;
    • Walton, Holly;
    • Baple, Emma L.;
    • Bertoli, Marta;
    • Fisher, Jane;
    • Gajewska‐Knapik, Katarzyna;
    • Holder‐Espinasse, Muriel;
    • Lafarge, Caroline;
    • Leeson‐Beevers, Kerry;
    • McEwan, Alec;
    • Pandya, Pranav;
    • Parker, Michael;
    • Peet, Sophie;
    • Roberts, Lauren;
    • Sankaran, Srividhya;
    • Smith, Audrey;
    • Tapon, Dagmar;
    • Wu, Wing Han
    Publication type:
    Article
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    ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

    Published in:
    Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
    By:
    • Yates, Thabo M.;
    • Drucker, Morgan;
    • Barnicoat, Angela;
    • Low, Karen;
    • Gerkes, Erica H.;
    • Fry, Andrew E.;
    • Parker, Michael J.;
    • O'Driscoll, Mary;
    • Charles, Perrine;
    • Cox, Helen;
    • Marey, Isabelle;
    • Keren, Boris;
    • Rinne, Tuula;
    • McEntagart, Meriel;
    • Ramachandran, Vijaya;
    • Drury, Suzanne;
    • Vansenne, Fleur;
    • Sival, Deborah A.;
    • Herkert, Johanna C.;
    • Callewaert, Bert
    Publication type:
    Article
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    Inactivation of <italic>AMMECR1</italic> is associated with growth, bone, and heart alterations.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 281, doi. 10.1002/humu.23373
    By:
    • Moysés‐Oliveira, Mariana;
    • Giannuzzi, Giuliana;
    • Fish, Richard J.;
    • Rosenfeld, Jill A.;
    • Petit, Florence;
    • Soares, Maria de Fatima;
    • Kulikowski, Leslie Domenici;
    • Di‐Battista, Adriana;
    • Zamariolli, Malú;
    • Xia, Fan;
    • Liehr, Thomas;
    • Kosyakova, Nadezda;
    • Carvalheira, Gianna;
    • Parker, Michael;
    • Seaby, Eleanor G.;
    • Ennis, Sarah;
    • Gilbert, Rodney D.;
    • Hagelstrom, R. Tanner;
    • Cremona, Maria L.;
    • Li, Wenhui L.
    Publication type:
    Article
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    Structure-function analysis of the AMPK activator SC4 and identification of a potent pan AMPK activator.

    Published in:
    Biochemical Journal, 2022, v. 479, n. 11, p. 1181, doi. 10.1042/BCJ20220067
    By:
    • Ovens, Ashley J.;
    • Yi Sing Gee;
    • Ling, Naomi X. Y.;
    • Dingyi Yu;
    • Hardee, Justin P.;
    • Chung, Jin D.;
    • Ngoei, Kevin R. W.;
    • Waters, Nicholas J.;
    • Hoffman, Nolan J.;
    • Scott, John W.;
    • Kim Loh;
    • Spengler, Katrin;
    • Heller, Regine;
    • Parker, Michael W.;
    • Lynch, Gordon S.;
    • Fei Huang;
    • Galic, Sandra;
    • Kemp, Bruce E.;
    • Baell, Jonathan B.;
    • Oakhill, Jonathan S.
    Publication type:
    Article
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    DISCERN-Genetics: quality criteria for information on genetic testing.

    Published in:
    European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1179, doi. 10.1038/sj.ejhg.5201701
    By:
    • Shepperd, Sasha;
    • Farndon, Peter;
    • Grainge, Vivian;
    • Oliver, Sandy;
    • Parker, Michael;
    • Perera, Rafael;
    • Bedford, Helen;
    • Elliman, David;
    • Kent, Alastair;
    • Rose, Peter
    Publication type:
    Article
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    Active memory controller.

    Published in:
    Journal of Supercomputing, 2012, v. 62, n. 1, p. 510, doi. 10.1007/s11227-011-0735-9
    By:
    • Fang, Zhen;
    • Zhang, Lixin;
    • Carter, John;
    • McKee, Sally;
    • Ibrahim, Ali;
    • Parker, Michael;
    • Jiang, Xiaowei
    Publication type:
    Article
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    Synthesis of radio-iodinated melatonergic agents.

    Published in:
    Journal of Labelled Compounds & Radiopharmaceuticals, 2002, v. 45, n. 11, p. 987, doi. 10.1002/jlcr.618
    By:
    • Dischino, Douglas D.;
    • Mattson, Ronald J.;
    • Ogan, Marc D.;
    • Parker, Michael F.;
    • Yevich, Joseph P.
    Publication type:
    Article
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