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Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. Tsangaris E, et al. Among authors: beyene j. J Med Genet. 2011 Sep;48(9):618-28. doi: 10.1136/jmg.2011.089821. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659346
Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes.
Teo JT, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Athale U, Jardine L, Hand JP, Tsangaris E, Odame I, Beyene J, Dror Y. Teo JT, et al. Among authors: beyene j. Pediatrics. 2008 Jul;122(1):e139-48. doi: 10.1542/peds.2007-3415. Pediatrics. 2008. PMID: 18595958
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y. Hashmi SK, et al. Among authors: beyene j. Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x. Clin Genet. 2011. PMID: 20569259
373 results