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  • Diana Bharucha‐Goebel
Showing 1 - 2 results of 2 for search 'Diana Bharucha‐Goebel', query time: 0.01s Refine Results
  1. 1
    Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome

    Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus‐myoclonus‐ataxia syndrome by Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha‐Goebel, Tyler Rapp, Cecilia Bouska, Alexandra Kornbluh, Kuntal Sen

    Published 2025-03-01
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  2. 2
    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy

    BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy by Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

    Published 2021-11-01
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