Rezultati - Witt, David R

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis od 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

Polni tekst Polni tekst Polni tekst

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel od 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.

Polni tekst Polni tekst Polni tekst

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis od 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.

Polni tekst Polni tekst