检索结果 - Jason Carmichael

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

    De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism 由 Linshan Shang, Lindsay B. Henderson, Megan T. Cho, Donald Petrey, Chin-To Fong, Katrina Haude, Natasha Shur, Julie Lundberg, Natalie Hauser, Jason Carmichael, Jeffrey W. Innis, Jane L. Schuette, Yvonne W. Wu, Shailesh Asaikar, Margaret A. Pearson, Leandra Folk, Kyle Retterer, Kristin G. Monaghan, Wendy K. Chung

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration

    Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration 由 Wan Hee Yoon, Héctor Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Nele A. Haelterman, Nagireddy Putluri, Vasanta Putluri, Arun Sreekumar, Tülay Tos, Ayşe Aksoy, Taraka Donti, Brett H. Graham, Mikiko Ohno, Eiichiro Nishi, Jill V. Hunter, Donna M. Muzny, Jason Carmichael, Joseph Shen, Valerie A. Arboleda, Stanley F. Nelson, Michael F. Wangler, Ender Karaca, James R. Lupski, Hugo J. Bellen

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

    Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care 由 David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthur E. DʼHarlingue, Ashmi Doshi, Katarzyna A. Ellsworth, Carolina I. Galarreta, Charlotte A. Hobbs, Kathleen Houtchens, Juliette Hunt, Priscilla Joe, Maries Joseph, Robert H. Kaplan, Stephen F. Kingsmore, Jason Knight, Aaina Kochhar, Richard Kronick, Jolie Limon, Madelena Martin, Katherine A. Rauen, Adam J. Schwarz, Suma P. Shankar, Rosanna Spicer, Mario A. Rojas, Ofelia Vargas-Shiraishi, Kristen Wigby, Neda Zadeh, Lauge Farnaes

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1

    Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1 由 Calixto‐Hope G. Lucas, Emily A. Sloan, Rohit Gupta, Jasper Wu, Drew Pratt, Harish N. Vasudevan, Ajay Ravindranathan, Jairo Barreto, Erik A. Williams, Anny Shai, Nicholas Whipple, Carol S. Bruggers, Ossama Maher, Burt Nabors, Michael Rodriguez, David Samuel, Melandee Brown, Jason Carmichael, Rufei Lu, Kanish Mirchia, Daniel V Sullivan, Melike Pekmezci, Tarık Tihan, Andrew W. Bollen, Arie Perry, Anuradha Banerjee, Sabine Mueller, Nalin Gupta, Shawn L. Hervey‐Jumper, Nancy Ann Oberheim Bush, Mariza Daras, Jennie Taylor, Nicholas Butowski, John de Groot, Jennifer Clarke, David R. Raleigh, J Costello, Joanna J. Phillips, Alyssa Reddy, Susan M. Chang, Mitchel S. Berger, David A. Solomon

    出版 2022
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: