Showing 1 - 5 results of 5 for search 'Ping Yee Billie Au', query time: 0.03s Refine Results
  1. 1
    De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy

    De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy by Quentin Plumereau, Aya Ebdalla, Hugo Poulin, Juan Pablo Appendino, Morris H. Scantlebury, Ping Yee Billie Au, Mohamed Chahine

    Published 2022-10-01
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  2. 2
    Hereditary spastic paraplegia initially diagnosed as cerebral palsy

    Hereditary spastic paraplegia initially diagnosed as cerebral palsy by Oksana Suchowersky, Setareh Ashtiani, Ping-Yee Billie Au, Scott McLeod, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau

    Published 2021-01-01
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  3. 3
    The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing

    The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing by Sophie vonBrauchitsch, Denise Haslinger, Silvia Lindlar, Holger Thiele, Natalie Bernsen, Felix Zahnert, Philipp S. Reif, Yunus Balcik, Ping Yee Billie Au, Colin B. Josephson, Janine Altmüller, Adam Strzelczyk, Susanne Knake, Felix Rosenow, Andreas Chiocchetti, Karl Martin Klein

    Published 2023-06-01
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  4. 4
    O20: The natural history of Angelman syndrome: Sixteen years and 450 individuals later…*

    O20: The natural history of Angelman syndrome: Sixteen years and 450 individuals later…* by Wen-Hann Tan, Katherine Anderson, Anjali Sadhwani, Ping Yee Billie Au, Carlos Bacino, Elizabeth Berry-Kravis, Cyrus Boelman, Robert Carson, Margaret DeRamus, Jessica Duis, Kara Murias, Cesar Ochoa-Lubinoff, Sarika Peters, Erick Sell, Steven Skinner, Amy Talboy, Anne Wheeler, Logan Wink, Angela Gwaltney, Lynne Bird

    Published 2023-01-01
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  5. 5
    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

    The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision by Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

    Published 2022-11-01
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