Kết quả tìm kiếm - Michele G. Mehaffey

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  1. 1
    X-linked thrombocytopenia caused by a novel mutation ofGATA-1

    X-linked thrombocytopenia caused by a novel mutation ofGATA-1 Bằng Michele G. Mehaffey, Anthea Newton, Manish J. Gandhi, Merlin Crossley, Jonathan G. Drachman

    Được phát hành 2001
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    Artigo
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  2. 2
    Parental Mosaicism in “De Novo” Epileptic Encephalopathies

    Parental Mosaicism in “De Novo” Epileptic Encephalopathies Bằng Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

    Được phát hành 2018
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    Carta
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  3. 3
    A mutational comparison of adult and adolescent and young adult (AYA) colon cancer

    A mutational comparison of adult and adolescent and young adult (AYA) colon cancer Bằng James V. Tricoli, Lisa A. Boardman, Rajesh Patidar, Sivasish Sindiri, Jin Sung Jang, William D. Walsh, Paul M. McGregor, Corinne E. Camalier, Michele G. Mehaffey, Wayne L. Furman, Armita Bahrami, P. Mickey Williams, Chih‐Jian Lih, Barbara A. Conley, Javed Khan

    Được phát hành 2017
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    Artigo
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  4. 4
    Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial

    Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial Bằng Chih-Jian Lih, David Sims, Robin Harrington, Eric C. Polley, Yingdong Zhao, Michele G. Mehaffey, Thomas Forbes, Biswajit Das, William D. Walsh, Vivekananda Datta, Kneshay N. Harper, Courtney H. Bouk, Larry Rubinstein, Richard Simon, Barbara A. Conley, Alice P. Chen, Shivaani Kummar, James H. Doroshow, P. Mickey Williams

    Được phát hành 2015
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    Artigo
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  5. 5
    Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue

    Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue Bằng Danielle M. Carrick, Michele G. Mehaffey, Michael C. Sachs, Sean F. Altekruse, Corinne E. Camalier, Rodrigo Chuaqui, Wendy Cozen, Biswajit Das, Brenda Y. Hernandez, Chih‐Jian Lih, Charles F. Lynch, Hala R. Makhlouf, Paul M. McGregor, Lisa M. McShane, JoyAnn Phillips Rohan, William D. Walsh, P. Mickey Williams, Elizabeth M. Gillanders, Leah E. Mechanic, Sheri D. Schully

    Được phát hành 2015
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    Artigo
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  6. 6
    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

    GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome Bằng Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui, Margaret P Adam, Michele G. Mehaffey, Kelly Kernan, Candace T. Myers, Carrie Fagerstrom, George Anadiotis, Yassmine Akkari, Katherine Robbins, Karen W. Gripp, Wagner Antonio da Rosa Baratela, Michael B. Bober, Angela L. Duker, Dan Doherty, Jennifer C. Dempsey, Daniel G. Miller, Martin Kircher, Michael J. Bamshad, Deborah A. Nickerson, Heather C. Mefford, Katia Sol‐Church

    Được phát hành 2018
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    Artigo
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  7. 7
    Randomized Trial of Oral Cyclophosphamide and Veliparib in High-Grade Serous Ovarian, Primary Peritoneal, or Fallopian Tube Cancers, or <i>BRCA</i>-Mutant Ovarian Cancer

    Randomized Trial of Oral Cyclophosphamide and Veliparib in High-Grade Serous Ovarian, Primary Peritoneal, or Fallopian Tube Cancers, or <i>BRCA</i>-Mutant Ovarian Cancer Bằng Shivaani Kummar, Amit M. Oza, Gini F. Fleming, Daniel M. Sullivan, David R. Gandara, Michael Naughton, Miguel A. Villalona‐Calero, Robert J. Morgan, Péter Szabó, Ahrim Youn, Alice P. Chen, Jiuping Ji, Deborah Allen, Chih-Jian Lih, Michele G. Mehaffey, William D. Walsh, Paul M. McGregor, Seth M. Steinberg, P. Mickey Williams, Robert J. Kinders, Barbara A. Conley, Richard Simon, James H. Doroshow

    Được phát hành 2015
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    Artigo
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  8. 8
    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

    Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Bằng Slavé Petrovski, Sébastien Küry, Candace T. Myers, Kwame Anyane‐Yeboa, Benjamin Cogné, Martin G. Bialer, Fan Xia, Parisa Hemati, James J. Riviello, Michele G. Mehaffey, Thomas Besnard, Emily Becraft, Alexandrea Wadley, Anya Revah Politi, Sophie Colombo, Xiaolin Zhu, Zhong Ren, Ian Andrews, Tracy Dudding‐Byth, Amy L. Schneider, Geoffrey Wallace, Aaron B.I. Rosen, Susan Schelley, Gregory M. Enns, Pierre Corre, Joline Dalton, Sandra Mercier, Xénia Latypova, Sébastien Schmitt, Edwin R. Guzman, Christine Moore, Louise Bier, Erin L. Heinzen, Peter Karachunski, Natasha Shur, Theresa A. Grebe, Alice Basinger, Joanne Nguyen, Stéphane Bézieau, Klaas J. Wierenga, Jonathan A. Bernstein, Ingrid E. Scheffer, Jill A. Rosenfeld, Heather C. Mefford, Bertrand Isidor, David B. Goldstein

    Được phát hành 2016
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    Artigo
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  9. 9
    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

    Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression Bằng Davut Pehli̇van, Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J. Trostle, Holly K. Harris, Bernhard Suter, Sukru Aras, Melissa B. Ramocki, Haowei Du, Michele G. Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper Eisfeldt, Maria Pettersson, Lynn Liu, Marwan Shinawi, Virginia Kimonis, Wojciech Wiszniewski, Kyle McKenzie, Timo Roser, Angela Maria Vianna‐Morgante, Alberto S. Cornier, Ahmed Abdelmoity, James Paul Hwang, Shalini N. Jhangiani, Donna M. Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G. Glaze, Jawid M. Fatih, Richard A. Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J. Sedlazeck, James R. Lupski, Huda Y. Zoghbi, Claudia M.B. Carvalho

    Được phát hành 2024
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    Artigo
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  10. 10
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Bằng Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    Được phát hành 2019
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    Artigo
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