検索結果 - 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 著者: 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

    出版事項 2014
    全文の入手
    Artigo
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  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 著者: 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

    出版事項 2014
    全文の入手
    Artigo
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