検索結果 - Patrick Cossette

P607: Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy 著者: Oleksandr Olifir, Claudia Moreau, Maxime Cadieux-Dion, Berge Minassian, Patrick Cossette, Simon Girard

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Unraveling the role of non-coding rare variants in epilepsy 著者: Alexandre Girard, Claudia Moreau, Jacques L. Michaud, Berge Minassian, Patrick Cossette, Simon L. Girard

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Unraveling the role of non-coding rare variants in epilepsy. 著者: Alexandre Girard, Claudia Moreau, Jacques L Michaud, Berge Minassian, Patrick Cossette, Simon L Girard

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Pediatric Oncology Knowledge Mobilization in Canada: Protocol for an Environmental Scan 著者: Emily K Drake, Catherine Foulem, Ekaterini Damoulianos, Stephanie Reid, Patrick Cossette, Michel Duval, Kirsten Efremov, James Foster, Karen Haas, Argerie Tsimicalis

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Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae 著者: Meijiang Liao, Uday Kundap, Richard E. Rosch, Dominic R. W. Burrows, Martin P. Meyer, Bouchra Ouled Amar Bencheikh, Patrick Cossette, Éric Samarut

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Assessment of burden and segregation profiles of CNVs in patients with epilepsy 著者: Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, Jacques L. Michaud, Berge A. Minassian, Patrick Cossette, Simon L. Girard

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Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. 著者: Alexandre Montpetit, Stéphanie Côté, Edna Brustein, Christian A Drouin, Line Lapointe, Michèle Boudreau, Caroline Meloche, Régen Drouin, Thomas J Hudson, Pierre Drapeau, Patrick Cossette

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Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells. 著者: Sarah Pickles, Maxime Cadieux-Dion, Jorge I Alvarez, Marc-Andre Lécuyer, Sarah L Peyrard, Laurie Destroismaisons, Lydia St-Onge, Simone Terouz, Patrick Cossette, Alexandre Prat, Christine Vande Velde

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Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report 著者: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani

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Global characterization of copy number variants in epilepsy patients from whole genome sequencing. 著者: Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette

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Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy 著者: Stefan Wolking, Claudia Moreau, Mark McCormack, Roland Krause, Martin Krenn, EpiPGx Consortium, Samuel Berkovic, Gianpiero L. Cavalleri, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Wolfram S. Kunz, Holger Lerche, Anthony G. Marson, Terence J. O’Brien, Slave Petrovski, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Federico Zara, Fritz Zimprich, Sanjay M. Sisodiya, Simon L. Girard, Patrick Cossette

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Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ familiesResearch in context 著者: Karen L. Oliver, Ingrid E. Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Samuel F. Berkovic, Melanie Bahlo, Zaid Afawi, Dina Amrom, Eva Andermann, Jocelyn F. Bautista, Susannah T. Bellows, Judith Bluvstein, Gregory D. Cascino, Seo-Kyung Chung, Patrick Cossette, Sarah W. Curtis, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P. Epstein, Catharine Freyer, Micheline Gravel, Rebekah V. Harris, Erin L. Heinzen, Olivia J. Henry, Heidi E. Kirsch, Robert C. Knowlton, Eric H. Kossoff, Rebecca Loeb, Daniel H. Lowenstein, Anthony G. Marson, Heather C. Mefford, Paul V. Motika, Terence J. O'Brien, Ruth Ottman, Juliann M. Paolicchi, Slave Petrovski, William O. Pickrell, Mark I. Rees, Lynette G. Sadleir, Jerry J. Shih, Rani K. Singh, Michael C. Smith, Philip E.M. Smith, Rhys H. Thomas, Judith Weisenberg, Peter Widdess-Walsh, Melodie R. Winawer

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