Výsledky vyhledávání - Skidmore, David L
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Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease Autor Guernsey, Duane L., Jiang, Haiyan, Bedard, Karen, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Rideout, Andrea L., Orr, Andrew, Ludman, Mark, Skidmore, David L., Benstead, Timothy, Samuels, Mark E.
Vydáno 2010Text -
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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists Autor Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Vydáno 2015Text -
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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis Autor de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F
Vydáno 2012Text