検索結果 - Lisa Baumbach‐Reardon

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  1. 1
    Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

    Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy 著者: Juliane Ramser, Mary Ellen Ahearn, C Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman, Alfons Meindl, Lisa Baumbach‐Reardon

    出版事項 2008
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    Artigo
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  2. 2
    Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

    Novel pathogenic variants and genes for myopathies identified by whole exome sequencing 著者: Jesse M. Hunter, Mary Ellen Ahearn, Christopher Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David W. Craig, John D. Carpten, Stephen W. Coons, Daphne E. deMello, Judith G. Hall, Saunder Bernes, Lisa Baumbach‐Reardon

    出版事項 2015
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    Artigo
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  3. 3
    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

    Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 著者: Gladys Montenegro, Adriana Rebelo, James W. Connell, Rachel Allison, Carla Babalini, M -A. D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene V. Strickland, Michael Gonzalez, Lisa Baumbach‐Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak‐Vance, Lüdger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner

    出版事項 2012
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    Artigo
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