Risultati della ricerca - Lisa Baumbach‐Reardon

  • Mostra 1 - 3 risultati su 3
Raffina i risultati
  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 di 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

    Pubblicazione 2008
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2015
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2012
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:

Strumenti per la ricerca: