Výsledky vyhledávání - Muzny, Donna
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Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability Autor Sabo, Aniko, Murdock, David, Dugan, Shannon, Meng, Qingchang, Gingras, Marie‐Claude, Hu, Jianhong, Muzny, Donna, Gibbs, Richard
Vydáno 2020Text -
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SNP-mediated translational suppression of ERManI modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency Autor Pan, Shujuan, Huang, Lu, McPherson, John, Muzny, Donna, Rouhani, Farshid, Brantly, Mark, Gibbs, Richard, Sifers, Richard N.
Vydáno 2009Text -
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Sequence and structure of the extrachromosomal palindrome encoding the ribosomal RNA genes in Dictyostelium Autor Sucgang, Richard, Chen, Guokai, Liu, Wen, Lindsay, Ryan, Lu, Jing, Muzny, Donna, Shaulsky, Gad, Loomis, William, Gibbs, Richard, Kuspa, Adam
Vydáno 2003Text -
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Deep Sequencing of Systematic Combinatorial Libraries Reveals β-lactamase Sequence Constraints at High Resolution Autor Deng, Zhifeng, Huang, Wanzhi, Bakkalbasi, Erol, Brown, Nicholas G., Adamski, Carolyn J., Rice, Kacie, Muzny, Donna, Gibbs, Richard A., Palzkill, Timothy
Vydáno 2012Text -
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Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy Autor Collison, Frederick T., Xie, Yajing (Angela), Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Fishman, Gerald A., Allikmets, Rando
Vydáno 2015Text -
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Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35 Autor Boonma, Prapaporn, Spinler, Jennifer K., Qin, Xiang, Jittaprasatsin, Chutima, Muzny, Donna M., Doddapaneni, Harsha, Gibbs, Richard, Petrosino, Joe, Tumwasorn, Somying, Versalovic, James
Vydáno 2014Text -
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Whole Exome Sequencing in a Large Pedigree with DCM Identifies a Novel Mutation in RBM20 Autor Robyns, Tomas, Willems, Rik, Cleemput, Johan Van, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Breckpot, Jeroen, Devriendt, Koenraad, Corveleyn, Anniek
Vydáno 2019Text -
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population Autor Gonzaga-Jauregui, Claudia, Gamble, Candace N, Yuan, Bo, Penney, Samantha, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Hecht, Jacqueline T
Vydáno 2015Text -
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Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation Autor Tuysuz, Beyhan, Pehlivan, Davut, Özkök, Ahmet, Jhangiani, Shalini, Yalcinkaya, Cengiz, Zeybek, Çiğdem Aktuğlu, Muzny, Donna Marie, Lupski, James R., Gibbs, Richard, Jaeken, Jaak
Vydáno 2015Text -
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Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study Autor Loomis, Stephanie J., Köttgen, Anna, Li, Man, Tin, Adrienne, Coresh, Josef, Boerwinkle, Eric, Gibbs, Richard, Muzny, Donna, Pankow, James, Selvin, Elizabeth, Duggal, Priya
Vydáno 2019Text -
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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities Autor Bainbridge, Matthew N, Wang, Min, Wu, Yuanqing, Newsham, Irene, Muzny, Donna M, Jefferies, John L, Albert, Thomas J, Burgess, Daniel L, Gibbs, Richard A
Vydáno 2011Text -
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Whole Genome Sequence of Treponema pallidum ssp. pallidum, Strain Mexico A, Suggests Recombination between Yaws and Syphilis Strains Autor Pětrošová, Helena, Zobaníková, Marie, Čejková, Darina, Mikalová, Lenka, Pospíšilová, Petra, Strouhal, Michal, Chen, Lei, Qin, Xiang, Muzny, Donna M., Weinstock, George M., Šmajs, David
Vydáno 2012Text -
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Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T-cells and granulocytes Autor Wang, Linghua, Swierczek, Sabina I., Drummond, Jennifer, Hickman, Kimberly, Walker, Kimberly, Doddapaneni, Harshavardhan, Muzny, Donna M., Gibbs, Richard A., Wheeler, David A., Prchal, Josef T.
Vydáno 2014Text -
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Neutral genomic regions refine models of recent rapid human population growth Autor Gazave, Elodie, Ma, Li, Chang, Diana, Coventry, Alex, Gao, Feng, Muzny, Donna, Boerwinkle, Eric, Gibbs, Richard A., Sing, Charles F., Clark, Andrew G., Keinan, Alon
Vydáno 2014Text -
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Extremely low-coverage whole genome sequencing in South Asians captures population genomics information Autor Rustagi, Navin, Zhou, Anbo, Watkins, W. Scott, Gedvilaite, Erika, Wang, Shuoguo, Ramesh, Naveen, Muzny, Donna, Gibbs, Richard A., Jorde, Lynn B., Yu, Fuli, Xing, Jinchuan
Vydáno 2017Text