Resultados de búsqueda - Diane Treadwell‐Deering

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  1. 1
    Brief Report: MECP2 Mutations in People Without Rett Syndrome

    Brief Report: MECP2 Mutations in People Without Rett Syndrome por Bernhard Suter, Diane Treadwell‐Deering, Huda Y. Zoghbi, Daniel G. Glaze, Jeffrey L. Neul

    Publicado 2013
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  2. 2
    To share or not to share: A randomized trial of consent for data sharing in genome research

    To share or not to share: A randomized trial of consent for data sharing in genome research por Amy L. McGuire, Jill M Oliver, Melody J. Slashinski, Jennifer L. Graves, Tao Wang, Paul Kelly, William C. Fisher, Ching C. Lau, John A. Goss, M. Fatih Okcu, Diane Treadwell‐Deering, Alica M. Goldman, Jeffrey L. Noebels, Susan G. Hilsenbeck

    Publicado 2011
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  3. 3
    Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype

    Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype por Lorraine Potocki, Weimin Bi, Diane Treadwell‐Deering, Claudia M.B. Carvalho, Anna Eifert, Ellen M. Friedman, Daniel G. Glaze, Kevin R. Krull, Jennifer A. Lee, Richard A. Lewis, Roberto Mendoza‐Londono, Patricia Robbins‐Furman, Chad A. Shaw, Xin Shi, George Weissenberger, Marjorie Withers, Svetlana A. Yatsenko, Elaine H. Zackai, Paweł Stankiewicz, James R. Lupski

    Publicado 2007
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  4. 4
    A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

    A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism por Patrícia B. S. Celestino-Soper, Sara Violante, Emily L. Crawford, Rui Luo, Anath C. Lionel, Elsa Delaby, Guiqing Cai, Bekim Sadiković, Kwanghyuk Lee, Charlene Lo, Kun Gao, Richard Person, Timothy J. M. Moss, Jennifer R. German, Ni Huang, Marwan Shinawi, Diane Treadwell‐Deering, Peter Szatmari, Wendy Roberts, Bridget A. Fernandez, Richard J. Schroer, Roger E. Stevenson, Joseph D. Buxbaum, Catalina Betancur, Stephen W. Scherer, Stephan Sanders, Daniel H. Geschwind, James S. Sutcliffe, Matthew E. Hurles, Ronald J. A. Wanders, Chad A. Shaw, Suzanne M. Leal, Edwin H. Cook, Robin P. Goin‐Kochel, Frédéric M. Vaz, Arthur L. Beaudet

    Publicado 2012
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  5. 5
    Identification of novel candidate disease genes from de novo exonic copy number variants

    Identification of novel candidate disease genes from de novo exonic copy number variants por Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban‐Akdemir, Amber N. Pursley, Sandesh C.S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell‐Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth Roeder, Kimberly Nugent, Patricia I. Bader, Gary A. Bellus, Michael A. Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert S. Wildin, Anita Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward P. Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

    Publicado 2017
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