Søgeresultater - Jacques Michaud

P437: Optimization of the diagnostic aid PhenoVar for the interpretation of rapid whole genome sequencing data in newborns in intensive care af Jonathan Cayouette, Philippe Thibault, Jacques Michaud, Sebastien Levesque

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UNDERSTANDING THE ROLE OF SYNGAP1 IN GABAERGIC CIRCUIT DEVELOPMENT AND FUNCTION af Vidya Jadhav, Bidisha Chattopadhyaya, Maria Isabel Carreño Muñoz, Jacques Michaud, Graziella Di Cristo

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MECHANISMS UNDERLYING SENSORY PROCESSING ALTERATIONS IN SYNGAP1 HAPLOINSUFFICIENCY af Graziella Di Cristo, Bidisha Chattopadhyaya, Maria Isabel Carreño Muñoz, Vidya Jadhav, Ruggiero Francavilla, Jacques Michaud

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P332: A homozygous POU3F2 polyproline tract expansion is associated with severe psychomotor delay, developmental and epileptic encephalopathy, and ichthyosis af Camille Tremblay-Laganière, Sophie Ehresmann, Alina Levtova, Julie Gauthier, He Fu, Robert McEvilly, Michael Rosenfeld, Elisabeth Simard-Tremblay, Isabelle DeBie, Jean-Francois Soucy, Jacques Michaud, Emmanuelle Lemyre, Philippe Campeau

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P597: All for One Clinical Genomics Network: Linking Canadian diagnostic laboratories to share genome-wide sequencing data to support rare disease diagnosis af E. Magda Price, Meredith Gillespie, Caitlin Chisholm, Ruben Attali, Talia Silver, Anna Szuto, GSO Study Team, Jacques Michaud, Dennis Bulman, Jordan Lerner-Ellis, Ma'n Zawati, Vincent Ferretti, Francois Bernier, Christian Marshall, Kym Boycott

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