检索结果 - James D. Reggin

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  1. 1
    Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

    Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations 由 Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama, Shin-ichi Hirabayashi, John Wilson, James D. Reggin, Pedro Mancías, Ian J. Butler, Miles Wilkinson, Michael Wegner, James R. Lupski

    出版 2004
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  2. 2
    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function 由 Alex R. Paciorkowski, Liu Lin Thio, Jill A. Rosenfeld, Marzena Gajęcka, Christina A. Gurnett, Shashikant Kulkarni, Wendy K. Chung, Eric D. Marsh, Mattia Gentile, James D. Reggin, James W. Wheless, Sandhya Balasubramanian, Ravinesh A. Kumar, Susan L. Christian, Carla Marini, Renzo Guerrini, Natalia Maltsev, Lisa G. Shaffer, William B. Dobyns

    出版 2011
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  3. 3
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes 由 Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    出版 2012
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  4. 4
    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

    PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution 由 Ghayda Mirzaa, Andrew E. Timms, Valerio Conti, Evan A. Boyle, Katta M. Girisha, Beth Martin, Martin Kircher, Carissa Olds, Jane Juusola, Sarah Collins, Kaylee Park, Melissa Carter, Ian Glass, Inge Krägeloh-Mann, David Chitayat, Aditi Shah Parikh, Rachael Bradshaw, Erin Torti, Steve Braddock, Leah W. Burke, Sondhya Ghedia, Mark Stephan, Fiona Stewart, Chitra Prasad, Melanie Napier, Sulagna C. Saitta, Rachel Straussberg, Michael T. Gabbett, Bridget O’Connor, Catherine E. Keegan, Lim Jiin Yin, Angeline Lai, Nicole Martin, Margaret L. McKinnon, Marie-Claude Addor, Luigi Boccuto, Charles E. Schwartz, Agustina Lanöel, Robert L. Conway, Koenraad Devriendt, Katrina Tatton‐Brown, Mary Ella Pierpont, Michael J. Painter, Lisa Worgan, James D. Reggin, Raoul C. M. Hennekam, Karen D. Tsuchiya, Colin C. Pritchard, Mariana Aracena, Karen W. Gripp, Maria Cordisco, Hilde Van Esch, Livia Garavelli, Cynthia J. Curry, Anne Goriely, Hülya Kayserilli, Jay Shendure, John M. Graham, Renzo Guerrini, William B. Dobyns

    出版 2016
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