檢索結果 - Anik St‐Denis
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Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy 由 Antoine Duquette, Katel Roddier, Julia McNabb‐Baltar, Isabelle Gosselin, Anik St‐Denis, Marie‐Josée Dicaire, Lina Loisel, Damian Labuda, Luc Marchand, Jean Mathieu, Jean‐Pierre Bouchard, Bernard Brais
出版 2005Artigo -
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Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy 由 Devon L. Johnstone, Thi-Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D. Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D. Wagner, Lijia Huang, Taila Hartley, Anik St‐Denis, Françoise Le Deist, Jacek Majewski, Dennis E. Bulman, Taroh Kinoshita, David A. Dyment, Kym M. Boycott, Philippe M. Campeau
出版 2017Artigo -
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy 由 Thi Tuyet Mai Nguyen, Yoshiko Murakami, Kristen Wigby, Nissan Vida Baratang, Justine Rousseau, Anik St‐Denis, Jill A. Rosenfeld, Stephanie C. Laniewski, Julie R. Jones, Alejandro Iglesias, Marilyn C. Jones, Diane Masser‐Frye, Angela E. Scheuerle, Denise Perry, Ryan J. Taft, Françoise Le Deist, Miles D. Thompson, Taroh Kinoshita, Philippe M. Campeau
出版 2018Artigo -
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Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 由 Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St‐Denis, Guoliang Chai, Norbert Fonya Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry‐Kravis, Fan Xia, Jessica Tardif, David Parry, Clare V. Logan, Christine P. Diggle, Christopher Bennett, Louise Hattingh, Jill A. Rosenfeld, Μ. Scott Perry, Michael Parker, Françoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau
出版 2017Artigo
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