Zobrazeno 1 - 10
of 1 398
pro vyhledávání: '"Friedman JM"'
Autor:
Li H Irene, Lemyre Emmanuelle, Langlois Sylvie, Gibson William T, Flibotte Stephane, Delaney Allen D, Chai David, Chan Susanna, Boerkoel Cornelius, Birch Patricia, Baross Agnes, Armstrong Linlea, Arbour Laura, Adam Shelin, Friedman JM, MacLeod Patrick, Mathers Joan, Michaud Jacques L, McGillivray Barbara C, Patel Millan S, Qian Hong, Rouleau Guy A, Van Allen Margot I, Yong Siu-Li, Zahir Farah R, Eydoux Patrice, Marra Marco A
Publikováno v:
BMC Genomics, Vol 10, Iss 1, p 526 (2009)
Abstract Background Array genomic hybridization is being used clinically to detect pathogenic copy number variants in children with intellectual disability and other birth defects. However, there is no agreement regarding the kind of array, the distr
Externí odkaz:
https://doaj.org/article/f4c731e301114efe9e880d23b03d48d4
Autor:
Kennedy Giulia, Go Anne, Fernandes Nicole, Brown-John Mabel, Birch Patricia, Cao Manqiu, Ally Adrian, Asano Jennifer, Chan Susanna Y, Qian Hong, Flibotte Stephane, Nayar Tarun, Li H Irene, Delaney Allen D, Baross Ágnes, Langlois Sylvie, Eydoux Patrice, Friedman JM, Marra Marco A
Publikováno v:
BMC Bioinformatics, Vol 8, Iss 1, p 368 (2007)
Abstract Background Genomic deletions and duplications are important in the pathogenesis of diseases, such as cancer and mental retardation, and have recently been shown to occur frequently in unaffected individuals as polymorphisms. Affymetrix GeneC
Externí odkaz:
https://doaj.org/article/cb041a68db54480bb203430381078a12
Autor:
Gusev, A, Shah, MJ, Kenny, EE, Ramachandran, A, Lowe, JK, Salit, J, Lee, CC, Levandowsky, EC, Weaver, TN, Doan, QC, Peckham, HE, McLaughlin, SF, Lyons, MR, Sheth, VN, Stoffel, M, De La Vega, FM, Friedman, JM, Breslow, JL, Pe'er, I
Whole-genome sequencing in an isolated population with few founders directly ascertains variants from the population bottleneck that may be rare elsewhere. In such populations, shared haplotypes allow imputation of variants in unsequenced samples wit
Externí odkaz:
http://arxiv.org/abs/1102.3720
Autor:
Yang, Quan-He 4, Botto, Lorenzo D, Gallagher, Margaret, Friedman, JM, Sanders, Christopher L, Koontz, Deborah, Nikolova, Stanimila, Erickson, J David, Steinberg, Karen
Publikováno v:
In The American Journal of Clinical Nutrition July 2008 88(1):232-246
Autor:
Yang, Quan-He, Carter, Heather K, Mulinare, Joseph, Berry, RJ, Friedman, JM, Erickson, J David
Publikováno v:
In The American Journal of Clinical Nutrition May 2007 85(5):1409-1416
Publikováno v:
In The Lancet 23 March 2002 359(9311):1019-1025