Resultados da busca - Witt, David R
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Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis por Douglas, Ganka V, Wiszniewska, Joanna, Lipson, Mark H, Witt, David R, McDowell, Taryn, Sifry-Platt, Mara, Hirano, Michio, Craigen, William J, Wong, Lee-Jun C
Publicado em 2011Texto -
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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel por Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Publicado em 2004Texto -
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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis por Kelsell, David P., Norgett, Elizabeth E., Unsworth, Harriet, Teh, Muy-Teck, Cullup, Thomas, Mein, Charles A., Dopping-Hepenstal, Patricia J., Dale, Beverly A., Tadini, Gianluca, Fleckman, Philip, Stephens, Karen G., Sybert, Virginia P., Mallory, Susan B., North, Bernard V., Witt, David R., Sprecher, Eli, E. M. Taylor, Aileen, Ilchyshyn, Andrew, Kennedy, Cameron T., Goodyear, Helen, Moss, Celia, Paige, David, Harper, John I., Young, Bryan D., Leigh, Irene M., Eady, Robin A. J., O’Toole, Edel A.
Publicado em 2005Texto