Canlyniadau Chwilio - Theodore Chiang

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  1. 1
    SARA, a FYVE Domain Protein that Recruits Smad2 to the TGFβ Receptor

    SARA, a FYVE Domain Protein that Recruits Smad2 to the TGFβ Receptor gan Tomoo Tsukazaki, Theodore Chiang, Anne Frances Davison, Liliana Attisano, Jeffrey L. Wrana

    Cyhoeddwyd 1998
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  2. 2
    Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)

    Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4) gan Lisa J. Strug, Tara Clarke, Theodore Chiang, Minchen Chien, Zeynep Baskurt, Weili Li, Ruslan Dorfman, Bhavna Bali, Elaine Wirrell, Steven L. Kugler, David E. Mandelbaum, Steven M. Wolf, Patricia McGoldrick, H. Huntley Hardison, Edward J. Novotny, Jingyue Ju, David A. Greenberg, James J. Russo, Deb K. Pal

    Cyhoeddwyd 2009
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  3. 3
    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort gan Tomasz Gambin, Zeynep Coban‐Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M.B. Carvalho, Chad A. Shaw, Shalini N. Jhangiani, Philip M. Boone, Mohammad K. Eldomery, Ender Karaca, Yavuz Bayram, Asbjørg Stray‐Pedersen, Donna M. Muzny, Wu‐Lin Charng, Vahid Bahrambeigi, John W. Belmont, Eric Boerwinkle, Arthur L. Beaudet, Richard A. Gibbs, James R. Lupski

    Cyhoeddwyd 2016
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  4. 4
    Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

    Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis gan Lei Sun, Johanna M. Rommens, Harriet Corvol, Weili Li, Xin Li, Theodore Chiang, Lin Fan, Ruslan Dorfman, Pierre Busson, Rashmi V Parekh, Diana Zélénika, Scott M. Blackman, Mary Corey, Vishal Doshi, Lindsay B. Henderson, Kathleen Naughton, Wanda K. O’Neal, Rhonda G. Pace, Jaclyn R. Stonebraker, Sally Wood, Fred A. Wright, Julian Zielenski, Annick Clément, Mitchell L. Drumm, Pierre‐Yves Boëlle, Garry R. Cutting, Michael R. Knowles, Peter Durie, Lisa J. Strug

    Cyhoeddwyd 2012
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  5. 5
    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels gan Bo Yuan, Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A. Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A. Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, Carlos A. Bacino, Christine M. Eng, Yaping Yang, James R. Lupski, Weimin Bi

    Cyhoeddwyd 2020
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  6. 6
    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing gan Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian Buhay, Narayanan Veeraraghavan, Alicia Hawes, Theodore Chiang, Magalie S. Leduc, Joke Beuten, Jing Zhang, Weimin He, Jennifer Scull, Alecia Willis, Megan Landsverk, William J. Craigen, Mir Reza Bekheirnia, Asbjørg Stray‐Pedersen, Pengfei Liu, Shu Wen, Wendy Alcaraz, Hong Cui, Magdalena Walkiewicz, Jeffrey G. Reid, Matthew N. Bainbridge, Ankita Patel, Eric Boerwinkle, Arthur L. Beaudet, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng

    Cyhoeddwyd 2014
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  7. 7
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases gan Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia Braxton, Patricia A. Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice Smith, Seema R. Lalani, Paweł Stankiewicz, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    Cyhoeddwyd 2019
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  8. 8
    Lessons learned from additional research analyses of unsolved clinical exome cases

    Lessons learned from additional research analyses of unsolved clinical exome cases gan Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray‐Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R. Lalani, Christian P. Schaaf, Michael F. Wangler, Carlos A. Bacino, Richard A. Lewis, Lorraine Potocki, Brett H. Graham, John W. Belmont, Fernando Scaglia, Jordan S. Orange, Shalini N. Jhangiani, Theodore Chiang, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Fan Xia, Arthur L. Beaudet, Eric Boerwinkle, Christine M. Eng, Sharon E. Plon, V. Reid Sutton, Richard A. Gibbs, Jennifer E. Posey, Yaping Yang, James R. Lupski

    Cyhoeddwyd 2017
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  9. 9
    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes gan Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban‐Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stéphanie Fox, Marjorie Withers, Stephanie Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria Alice Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard A. Lewis, Donna M. Muzny, Timothy Lotze, Eric Boerwinkle, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhaş, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski

    Cyhoeddwyd 2016
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  10. 10
    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations gan Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep H. Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid S. Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus A. Wilfong, Hope Northrup, Adekunle M. Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane E. Crosson, Jessica Duis, Gustavo Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett H. Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

    Cyhoeddwyd 2016
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  11. 11
    Use of Exome Sequencing for Infants in Intensive Care Units

    Use of Exome Sequencing for Infants in Intensive Care Units gan Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani

    Cyhoeddwyd 2017
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  12. 12
    Reanalysis of Clinical Exome Sequencing Data

    Reanalysis of Clinical Exome Sequencing Data gan Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew R. Ghazi, Jill A. Rosenfeld, Pilar Magoulas, Alicia Braxton, Patricia A. Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya N. Eble, Yasemen Eroğlu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen W. Gripp, Soledad Kleppe, Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang

    Cyhoeddwyd 2019
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  13. 13
    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network gan Hana Zouk, Eric Venner, Niall J. Lennon, Donna M. Muzny, Debra Abrams, Samuel E. Adunyah, Ladia Albertson‐Junkans, Darren C. Ames, Paul S. Appelbaum, Samuel Aronson, Sharon Aufox, Lawrence Babb, Adithya Balasubramanian, Hana Bangash, Melissa Basford, Lisa Bastarache, Samantha Baxter, Meckenzie Behr, Barbara Benoit, Elizabeth Bhoj, Suzette J. Bielinski, Harris T. Bland, Carrie L. Blout Zawatsky, Kenneth M. Borthwick, Erwin P. Böttinger, Mark Bowser, Harrison Brand, Murray H. Brilliant, Wendy Brodeur, Pedro J. Caraballo, David Carrell, Andrew Carroll, Berta Almoguera, Lisa Castillo, Víctor M. Castro, Gauthami Chandanavelli, Theodore Chiang, Rex L. Chisholm, Kurt D. Christensen, Wendy K. Chung, Christopher G. Chute, Brittany City, Beth L. Cobb, John J. Connolly, Paul K. Crane, Katherine D. Crew, David R. Crosslin, Mariza de Andrade, Jessica De la Cruz, Shawn Denson, Joshua C. Denny, Tim DeSmet, Ozan Dikilitas, Christopher A. Friedrich, Stephanie M. Fullerton, Birgit Funke, Stacey Gabriel, Vivian S. Gainer, Ali G. Gharavi, Andrew M. Glazer, Joseph Glessner, Jessica Goehringer, Allan Gordon, Chet Graham, Robert C. Green, Justin H. Gundelach, Jyoti G. Dayal, Heather S. Hain, Hákon Hákonarson, Maegan Harden, John B. Harley, Margaret Harr, Andrea L. Hartzler, M. Geoffrey Hayes, Scott J. Hebbring, Nora B. Henrikson, Andrew D. Hershey, Christin Hoell, Ingrid A. Holm, Kayla M. Howell, George Hripcsak, Jianhong Hu, Gail P. Jarvik, Joy C. Jayaseelan, Yunyun Jiang, Yoonjung Yoonie Joo, Sheethal Jose, Navya Shilpa Josyula, Anne E. Justice, Sara E. Kalla, Divya Kalra, Elizabeth W. Karlson, Melissa Kelly, Brendan J. Keating, Eimear E. Kenny, Dustin Key, Krzysztof Kiryluk, Terrie Kitchner, Barbara J. Klanderman, Eric W. Klee

    Cyhoeddwyd 2019
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