Works matching IS 10597794 AND DT 2009 AND VI 30 AND IP 12

Results: 18
    1

    Deep sequencing to reveal new variants in pooled DNA samples.

    Published in:
    Human Mutation, 2009, v. 30, n. 12, p. 1703, doi. 10.1002/humu.21122
    By:
    • Out, Astrid A.;
    • van Minderhout, Ivonne J.H.M.;
    • Goeman, Jelle J.;
    • Ariyurek, Yavuz;
    • Ossowski, Stephan;
    • Schneeberger, Korbinian;
    • Weigel, Detlef;
    • van Galen, Michiel;
    • Taschner, Peter E.M.;
    • Tops, Carli M.J.;
    • Breuning, Martijn H.;
    • van Ommen, Gert-Jan B.;
    • den Dunnen, Johan T.;
    • Devilee, Peter;
    • Hes, Frederik J.
    Publication type:
    Article
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    The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

    Published in:
    Human Mutation, 2009, v. 30, n. 12, p. 1683, doi. 10.1002/humu.21121
    By:
    • Flanagan, John J.;
    • Rossi, Barbara;
    • Tang, Katherine;
    • Wu, Xiaoyang;
    • Mascioli, Kirsten;
    • Donaudy, Francesca;
    • Tuzzi, Maria Rosaria;
    • Fontana, Federica;
    • Cubellis, Maria Vittoria;
    • Porto, Caterina;
    • Benjamin, Elfrida;
    • Lockhart, David J.;
    • Valenzano, Kenneth J.;
    • Andria, Generoso;
    • Parenti, Giancarlo;
    • Do, Hung V.
    Publication type:
    Article
    7

    Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

    Published in:
    Human Mutation, 2009, v. 30, n. 12, p. 1657, doi. 10.1002/humu.21114
    By:
    • Flanigan, Kevin M.;
    • Dunn, Diane M.;
    • von Niederhausern, Andrew;
    • Soltanzadeh, Payam;
    • Gappmaier, Eduard;
    • Howard, Michael T.;
    • Sampson, Jacinda B.;
    • Mendell, Jerry R.;
    • Wall, Cheryl;
    • King, Wendy M.;
    • Pestronk, Alan;
    • Florence, Julaine M.;
    • Connolly, Anne M.;
    • Mathews, Katherine D.;
    • Stephan, Carrie M.;
    • Laubenthal, Karla S.;
    • Wong, Brenda L.;
    • Morehart, Paula J.;
    • Meyer, Amy;
    • Finkel, Richard S.
    Publication type:
    Article
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    Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling.

    Published in:
    Human Mutation, 2009, v. 30, n. 12, p. 1667, doi. 10.1002/humu.21117
    By:
    • Valencia, Maria;
    • Lapunzina, Pablo;
    • Lim, Derek;
    • Zannolli, Raffaella;
    • Bartholdi, Deborah;
    • Wollnik, Bernd;
    • Al-Ajlouni, Othman;
    • Eid, Suhair S.;
    • Cox, Helen;
    • Buoni, Sabrina;
    • Hayek, Joseph;
    • Martinez-Frias, Maria L.;
    • Antonio, Perez-Aytes;
    • Temtamy, Samia;
    • Aglan, Mona;
    • Goodship, Judith A.;
    • Ruiz-Perez, Victor L.
    Publication type:
    Article
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    BAK1 gene variation and abdominal aortic aneurysms.

    Published in:
    Human Mutation, 2009, v. 30, n. 12, p. 1714, doi. 10.1002/humu.21163
    By:
    • Gottlieb, Bruce;
    • Chalifour, Lorraine E.;
    • Mitmaker, Benjamin;
    • Sheiner, Nathan;
    • Obrand, Daniel;
    • Abraham, Cherrie;
    • Meilleur, Melissa;
    • Sugahara, Tomoko;
    • Bkaily, Ghassan;
    • Schweitzer, Morris
    Publication type:
    Article
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