खोज परिणाम - Donna M. Muzny
- प्रदर्शित 1 - 20 परिणाम 255
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Large-Scale Comparative Sequence Analysis of the Human and Murine Bruton’s Tyrosine Kinase Loci Reveals Conserved Regulatory Domains द्वारा John C. Oeltjen, Tracy M. Malley, Donna M. Muzny, Webb Miller, Richard A. Gibbs, John W. Belmont
प्रकाशित 1997Artigo -
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Single nucleotide polymorphism-mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficie... द्वारा Shujuan Pan, Lu Huang, John D. McPherson, Donna M. Muzny, Farshid N. Rouhani, Mark Brantly, Richard A. Gibbs, Richard N. Sifers
प्रकाशित 2009Artigo -
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Deep Sequencing of Systematic Combinatorial Libraries Reveals β-Lactamase Sequence Constraints at High Resolution द्वारा Zhifeng Deng, Wanzhi Huang, Erol Bakkalbasi, Nicholas G. Brown, Carolyn J. Adamski, Kacie Rice, Donna M. Muzny, Richard A. Gibbs, Timothy Palzkill
प्रकाशित 2012Artigo -
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population द्वारा Claudia Gonzaga‐Jauregui, Candace Gamble, Bo Yuan, Samantha Penney, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Jacqueline T. Hecht
प्रकाशित 2014Artigo -
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Whole Genome Sequence of Treponema pallidum ssp. pallidum, Strain Mexico A, Suggests Recombination between Yaws and Syphilis Strains द्वारा Helena Pětrošová, Marie Zobaníková, Darina Čejková, Lenka Mikalová, Petra Pospíšilová, Michal Strouhal, Lei Chen, Xiang Qin, Donna M. Muzny, George M. Weinstock, David Šmajs
प्रकाशित 2012Artigo -
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Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities द्वारा Matthew N. Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M. Muzny, John L. Jefferies, Thomas J. Albert, Daniel L. Burgess, Richard A. Gibbs
प्रकाशित 2011Artigo -
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Identification of <i>TP53</i> as an acute lymphocytic leukemia susceptibility gene through exome sequencing द्वारा Bradford C. Powell, Lichun Jiang, Donna M. Muzny, Lisa R. Treviño, ZoAnn E. Dreyer, Louise C. Strong, David A. Wheeler, Richard A. Gibbs, Sharon E. Plon
प्रकाशित 2012Artigo -
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Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology द्वारा Adam C. English, Stephen M. Richards, Yi Han, Min Wang, Vanesa Vee, Jiaxin Qu, Xiang Qin, Donna M. Muzny, Jeffrey G. Reid, Kim C. Worley, Richard A. Gibbs
प्रकाशित 2012Artigo -
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Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability द्वारा Richard J. Wang, Gregg W.C. Thomas, Muthuswamy Raveendran, R. Alan Harris, HarshaVardhan Doddapaneni, Donna M. Muzny, John P. Capitanio, Predrag Radivojac, Jeffrey Rogers, Matthew W. Hahn
प्रकाशित 2020Artigo -
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<i>MLH1</i>‐silenced and non‐silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes द्वारा Lawrence A. Donehower, Chad J. Creighton, Nikolaus Schultz, Eve Shinbrot, Kyle Chang, Preethi H. Gunaratne, Donna M. Muzny, Chris Sander, Stanley R. Hamilton, Richard A. Gibbs, David A. Wheeler
प्रकाशित 2012Artigo -
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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders द्वारा Christian P. Schaaf, Aniko Sabo, Yasunari Sakai, Jeffrey R. Crosby, Donna M. Muzny, Alicia Hawes, Lora Lewis, Haji Akbar, R. Varghese, Eric Boerwinkle, Richard A. Gibbs, Huda Y. Zoghbi
प्रकाशित 2011Artigo -
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CRHR1 genotypes, neural circuits and the diathesis for anxiety and depression द्वारा Jeffrey Rogers, Muthuswamy Raveendran, Gloria L. Fawcett, Andrew S. Fox, Steven E. Shelton, Jonathan A. Oler, James M. Cheverud, Donna M. Muzny, Richard A. Gibbs, Richard J. Davidson, Ned H. Kalin
प्रकाशित 2012Artigo -
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PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations द्वारा Min Wang, Christine R. Beck, Adam C. English, Qingchang Meng, Christian Buhay, Yi Han, HarshaVardhan Doddapaneni, Fuli Yu, Eric Boerwinkle, James R. Lupski, Donna M. Muzny, Richard A. Gibbs
प्रकाशित 2015Artigo -
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Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion द्वारा Ruibin Xi, Angela Hadjipanayis, Lovelace J. Luquette, Tae‐Min Kim, Eunjung Lee, Jianhua Zhang, Mark D. Johnson, Donna M. Muzny, David A. Wheeler, Richard A. Gibbs, Raju Kucherlapati, Peter J. Park
प्रकाशित 2011Artigo -
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Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits द्वारा Alanna C. Morrison, Zhuoyi Huang, Bing Yu, Ginger Metcalf, Xiaoming Liu, Christie M. Ballantyne, Josef Coresh, Fuli Yu, Donna M. Muzny, Elena V. Feofanova, Navin Rustagi, Richard A. Gibbs, Eric Boerwinkle
प्रकाशित 2017Artigo
खोज साधन:
संबंधित विषय
Biology
Genetics
Gene
Medicine
Genome
Mutation
Exome sequencing
Computational biology
Phenotype
Internal medicine
Exome
Evolutionary biology
Allele
Pathology
Bioinformatics
Genotype
Disease
Genomics
Population
Cancer research
Single-nucleotide polymorphism
Cancer
Copy-number variation
Missense mutation
DNA sequencing
Whole genome sequencing
Human genetics
Immunology
Gene expression
Sociology