Canlyniadau Chwilio - Joe C.H. Sim

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  1. 1
    Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

    Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology gan Gabrielle R. Wilson, Joe C.H. Sim, Catriona McLean, Maila Giannandrea, Charles A. Galea, Jessica R. Riseley, Sarah Stephenson, Elizabeth Fitzpatrick, Stefan A. Haas, Kate Pope, Kirk J. Hogan, Ronald G. Gregg, Catherine J. Bromhead, David S. Wargowski, Christopher Lawrence, Paul A. James, Andrew Churchyard, Yujing Gao, Dean Phelan, Greta Gillies, Nicholas Salce, Lynn Stanford, Ashley P.L. Marsh, Maria Lidia Mignogna, Susan J. Hayflick, Richard J. Leventer, Martin B. Delatycki, George D. Mellick, Vera M. Kalscheuer, Patrizia D’Adamo, Melanie Bahlo, David J. Amor, Paul J. Lockhart

    Cyhoeddwyd 2014
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  2. 2
    Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

    Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features gan Davor Lessel, Bruno Vaz, Swagata Halder, Paul J. Lockhart, Ivana Marinovic‐Terzić, Jaime López-Mosqueda, Melanie Philipp, Joe C.H. Sim, Katherine R. Smith, Judith Oehler, Elisa Barrón‐Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J. Leventer, Martin B. Delatycki, Gotthold Barbi, Simon von Ameln, Josef Högel, Marina Degoricija, Regina Fertig, Martin D. Burkhalter, Kay Hofmann, Hölger Thiele, Janine Altmüller, Gudrun Nürnberg, Peter Nürnberg, Melanie Bahlo, George M. Martin, Cora M. Aalfs, Junko Oshima, Janoš Terzić, David J. Amor, Ivan Đikić, Kristijan Ramadan, Christian Kubisch

    Cyhoeddwyd 2014
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:

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