Hasil Pencarian - Ryan J Taft

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  1. 1
    Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks

    Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks oleh Sam P. Nayler, Joseph E. Powell, Joseph E. Powell, Darya P. Vanichkina, Othmar Korn, Christine A. Wells, Christine A. Wells, Refik Kanjhan, Jian Sun, Ryan J. Taft, Ryan J. Taft, Ryan J. Taft, Martin F. Lavin, Ernst J. Wolvetang

    Diterbitkan 2017-10-01
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  2. 2
    Diverse RNA interference strategies in early-branching metazoans

    Diverse RNA interference strategies in early-branching metazoans oleh Andrew D. Calcino, Selene L. Fernandez-Valverde, Ryan J. Taft, Bernard M. Degnan

    Diterbitkan 2018-11-01
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  3. 3
    The diagnostic trajectory of infants and children with clinical features of genetic disease

    The diagnostic trajectory of infants and children with clinical features of genetic disease oleh Brock E. Schroeder, Nina Gonzaludo, Katie Everson, Kyi-Sin Than, Jeff Sullivan, Ryan J. Taft, John W. Belmont

    Diterbitkan 2021-11-01
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  4. 4
    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. oleh David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft

    Diterbitkan 2014-01-01
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  5. 5
    DNA methylation regulates discrimination of enhancers from promoters through a H3K4me1-H3K4me3 seesaw mechanism

    DNA methylation regulates discrimination of enhancers from promoters through a H3K4me1-H3K4me3 seesaw mechanism oleh Ali Sharifi-Zarchi, Daniela Gerovska, Kenjiro Adachi, Mehdi Totonchi, Hamid Pezeshk, Ryan J. Taft, Hans R. Schöler, Hamidreza Chitsaz, Mehdi Sadeghi, Hossein Baharvand, Marcos J. Araúzo-Bravo

    Diterbitkan 2017-12-01
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  6. 6
    Expression of transposable elements in neural tissues during Xenopus development.

    Expression of transposable elements in neural tissues during Xenopus development. oleh Fernando Faunes, Natalia Sanchez, Mauricio Moreno, Gonzalo H Olivares, Dasfne Lee-Liu, Leonardo Almonacid, Alex W Slater, Tomas Norambuena, Ryan J Taft, John S Mattick, Francisco Melo, Juan Larrain

    Diterbitkan 2011-01-01
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  7. 7
    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders oleh Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    Diterbitkan 2024-02-01
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  8. 8
    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action oleh Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

    Diterbitkan 2024-03-01
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  9. 9
    The reality of pervasive transcription.

    The reality of pervasive transcription. oleh Michael B Clark, Paulo P Amaral, Felix J Schlesinger, Marcel E Dinger, Ryan J Taft, John L Rinn, Chris P Ponting, Peter F Stadler, Kevin V Morris, Antonin Morillon, Joel S Rozowsky, Mark B Gerstein, Claes Wahlestedt, Yoshihide Hayashizaki, Piero Carninci, Thomas R Gingeras, John S Mattick

    Diterbitkan 2011-07-01
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  10. 10
    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

    ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data oleh Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle

    Diterbitkan 2020-04-01
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  11. 11
    Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

    Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases oleh Amanda R. Clause, Julie P. Taylor, Revathi Rajkumar, Krista Bluske, Maren Bennett, Laura M. Amendola, David R. Bentley, Ryan J. Taft, Denise L. Perry, Alison J. Coffey, Carolyn Brown, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole J. Burns, Anjana Chandrasekhar, Aditi Chawla, Katie Golden-Grant, Akanchha Kesari, Alka Malhotra, Becky Milewski, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Brittany Thomas, Erin Thorpe

    Diterbitkan 2023-02-01
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  12. 12
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing oleh Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*

    Diterbitkan 2022-04-01
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  13. 13
    Genome sequencing in persistently unsolved white matter disorders

    Genome sequencing in persistently unsolved white matter disorders oleh Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver

    Diterbitkan 2020-01-01
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