অনুসন্ধান ফলাফলগুলি - Koboldt, Daniel C.
- প্রদর্শন 1 - 20 ফলাফল এর 83
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Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report অনুযায়ী Franklin, Andrew D., Chaudhari, Bimal P., Koboldt, Daniel C., Machut, Kerri Z.
প্রকাশিত 2021পাঠ্য -
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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS অনুযায়ী Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger
প্রকাশিত 2015পাঠ্য -
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Comparison of C. elegans and C. briggsae Genome Sequences Reveals Extensive Conservation of Chromosome Organization and Synteny অনুযায়ী Hillier, LaDeana W, Miller, Raymond D, Baird, Scott E, Chinwalla, Asif, Fulton, Lucinda A, Koboldt, Daniel C, Waterston, Robert H
প্রকাশিত 2007পাঠ্য -
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A toolkit for rapid gene mapping in the nematode Caenorhabditis briggsae অনুযায়ী Koboldt, Daniel C, Staisch, Julia, Thillainathan, Bavithra, Haines, Karen, Baird, Scott E, Chamberlin, Helen M, Haag, Eric S, Miller, Raymond D, Gupta, Bhagwati P
প্রকাশিত 2010পাঠ্য -
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Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination অনুযায়ী Ross, Joseph A., Koboldt, Daniel C., Staisch, Julia E., Chamberlin, Helen M., Gupta, Bhagwati P., Miller, Raymond D., Baird, Scott E., Haag, Eric S.
প্রকাশিত 2011পাঠ্য -
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Germline BAP1 Mutation in a Family With Multi-Generational Meningioma With Rhabdoid Features: A Case Series and Literature Review অনুযায়ী Prasad, Rahul N., Gardner, Ulysses G., Yaney, Alexander, Prevedello, Daniel M., Koboldt, Daniel C., Thomas, Diana L., Mardis, Elaine R., Palmer, Joshua D.
প্রকাশিত 2021পাঠ্য -
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Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers অনুযায়ী Pfefferle, Adam D., Agrawal, Yash N., Koboldt, Daniel C., Kanchi, Krishna L., Herschkowitz, Jason I., Mardis, Elaine R., Rosen, Jeffrey M., Perou, Charles M.
প্রকাশিত 2016পাঠ্য -
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A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome অনুযায়ী Koboldt, Daniel C., Mihalic Mosher, Theresa, Kelly, Benjamin J., Sites, Emily, Bartholomew, Dennis, Hickey, Scott E., McBride, Kim, Wilson, Richard K., White, Peter
প্রকাশিত 2018পাঠ্য -
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VarScan: variant detection in massively parallel sequencing of individual and pooled samples অনুযায়ী Koboldt, Daniel C., Chen, Ken, Wylie, Todd, Larson, David E., McLellan, Michael D., Mardis, Elaine R., Weinstock, George M., Wilson, Richard K., Ding, Li
প্রকাশিত 2009পাঠ্য -
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De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy অনুযায়ী Latsko, Maeson S., Koboldt, Daniel C., Franklin, Samuel J., Hickey, Scott E., Williamson, Rachel K., Garner, Shannon, Ostendorf, Adam P., Lee, Kristy, White, Peter, Wilson, Richard K.
প্রকাশিত 2022পাঠ্য -
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VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing অনুযায়ী Koboldt, Daniel C., Zhang, Qunyuan, Larson, David E., Shen, Dong, McLellan, Michael D., Lin, Ling, Miller, Christopher A., Mardis, Elaine R., Ding, Li, Wilson, Richard K.
প্রকাশিত 2012পাঠ্য -
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Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant অনুযায়ী Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.
প্রকাশিত 2020পাঠ্য