Hakutulokset - Brian Wishart

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  1. 1
    Updated consensus guidelines on the management of Phelan–McDermid syndrome

    Updated consensus guidelines on the management of Phelan–McDermid syndrome Tekijä Siddharth Srivastava, Mustafa Şahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm, Jonathan A. Bernstein, Afua Asante‐Otoo, William E. Bennett, Catalina Betancur, Tegwyn H. Brickhouse, Maria Rita Passos‐Bueno, Maya Chopra, Celanie K. Christensen, Jennifer L Cully, Kira A. Dies, Kate Friedman, Brittany Gummere, J. Lloyd Holder, Andrés Jiménez-Gómez, Carolyn A. Kerins, Omar Khan, Teresa M. Kohlenberg, Ronald V. Lacro, Lori A. Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann M. Neumeyer, Scott M. Paul, Katy Phelan, Antonio M. Persico, Robert Rapaport, Curtis Rogers, Jeffrey M. Saland, Swathi Sethuram, J Shapiro, Phillip I. Tarr, Kerry M. White, Jordan Wickstrom, Kent M. Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon

    Julkaistu 2023
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    Revisão
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  2. 2
    <i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

    <i>SPTSSA</i> variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia Tekijä Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Gotkine, Elizabeth Doney, Paula Goldenberg, Queenie K.‐G. Tan, Yi Gong, Benjamin P. Kleinstiver, Brian Wishart, Heidi Cope, Cláudia Brito Pires, Hannah E. Stutzman, Rebecca C. Spillmann, Mercedes E. Alejandro, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Hsiao‐Tuan Chao, Gary Clark, William J. Craigen, Hongzheng Dai, Shweta U. Dhar, Lisa Emrick, Alica M. Goldman, Neil A. Hanchard, Fariha Jamal, Lefkothea Karaviti, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Ronit Marom, Paolo Moretti, David R. Murdock, Sarah K. Nicholas, James P. Orengo, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Pengfei Liu, Patricia A. Ward, Edward M. Behrens, Matthew A. Deardorff, Marni J. Falk, Kelly Hassey, Kathleen E. Sullivan, Adeline Vanderver, David B. Goldstein, Heidi Cope, Allyn McConkie‐Rosell, Kelly Schoch, Vandana Shashi, Edward C. Smith, Rebecca C. Spillmann, Jennifer A. Sullivan, Queenie K-G Tan, Sophie Nicole, Pankaj B. Agrawal, Alan H. Beggs, Gerard T. Berry, Lauren C. Briere, Laurel A. Cobban, Matthew Coggins, Cynthia M. Cooper, Elizabeth L. Fieg, Frances A. High, Ingrid A. Holm, Susan Korrick, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Stephen C. Pak, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Melissa Walker, Chris A. Walsh, Cecilia Esteves, Emily G. Kelley, Isaac S. Kohane, Kimberly LeBlanc, Alexa T. McCray, Anna Nagy

    Julkaistu 2023
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