Хайлтын үр дүнгүүд - Anik St‐Denis
- 8-н 1 - 8 үр дүнгүүдийг харуулж байна
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Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report -н Sébastien Poulin, C. Corbeil, Mélanie Nguyen, Anik St‐Denis, Lise Côté, Françoise Le Deist, Alex Carignan
Хэвлэсэн 2013Artigo -
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Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy -н 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
Хэвлэсэн 2005Artigo -
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Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy -н 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
Хэвлэсэн 2017Artigo -
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy -н 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
Хэвлэсэн 2018Artigo -
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Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia -н 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
Хэвлэсэн 2017Artigo -
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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy -н Thi Tuyet Mai Nguyen, Yoshiko Murakami, Sabrina Mobilio, Marcello Niceta, Giuseppe Zampino, Christophe Philippe, Sébastien Moutton, Maha S. Zaki, Kiely N. James, Damir Musaev, Weiyi Mu, Kristin Barañano, Jessica Nance, Jill A. Rosenfeld, Nancy Braverman, Andrea Ciolfi, Francisca Millan, Richard Person, Ange-Line Bruel, Christel Thauvin‐Robinet, Athina Ververi, Catherine DeVile, Alison Male, Stéphanie Efthymiou, Reza Maroofian, Henry Houlden, Shazia Maqbool, Fatima Rahman, Nissan Vida Baratang, Justine Rousseau, Anik St‐Denis, Matthew J. Elrick, Irina Anselm, Lance H. Rodan, Marco Tartaglia, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau
Хэвлэсэн 2020Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Mutation
Cell biology
Hypotonia
Medicine
Molecular biology
Neuroscience
Ataxia
Compound heterozygosity
Environmental health
Immunology
Missense mutation
Phenotype
Population
RNA
Allele
Antibody
Aphasia
Apraxia
Atrophy
Autoantibody
Biochemistry
Chemistry
Coinfection
Cytokine
Endocrinology
Endoplasmic reticulum
Epilepsy