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Whole Genome Sequencing to Resolve the Genomic Architecture of Cerebral Palsy in a Canadian Cohort

Author:Oskoui, Maryam   Zarrei, Mehdi   Engchuan, Worrawat   Sondheimer, Neal   Thiruv, Bhooma   Higginbotham, Edward   Thapa, Ritesh   Behlim, Tarannum   Aimola, Sabrina   Wei, John   Danthi, Prakroothi   Pellecchia, Giovanna   Ho, Karen   de Rijke, Jill   Howe, Jennifer   Nalpathamkalam, Thomas   Manshaei, Roozbeh   Whitney, Joseph   Patel, Rohan   Hamdan, Omar   Shaath, Rulan   Knights, Shannon   Trost, Brett   Samdup, Dawa   MCCORMICK, ANNA   Hunt, Carolyn   Kirton, Adam   Kawamura, Anne   Mesterman, Ronit   Gorter, Jan Willem   Dlamini, Nomazulu   Merico, Daniele   Yuen, Ryan   Shevell, Michael   Stavropoulos, Dimitri   Wintle, Richard   Fehlings, Darcy   Scherer, Stephen   

Session Name:P13: Child Neurology and Developmental Neurology: Cerebral Palsy/Autism Spectrum Disorder/Neurodevelopmental Disorders  

Topic:Child Neurology and Developmental Neurology  

Program Number:P13.003  

Author Institution:Mcgill University, Montreal, QC, Canada  Centre for Applied Genomics, Toronto, ON, Canada  The Hospital for Sick Children, TORONTO, ON, Canada  University of Toronto, Toronto, ON, Canada  Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada  Research Institute of the McGill University Health Centre, Montreal, QC, Canada  Grandview Children's Centre, Toronto, ON, Canada  Queen's University, Kingston, ON, Canada  Children's Hospital of Eastern Ontario, Greely, ON, Canada  Grandview Children's Centre, Oshawa, ON, Canada  Alberta Children's Hospital, Calgary, AB, Canada  University of Calgary, Calgary, AB, Canada  McMaster University, Hamilton, ON, Canada  The Hospital for Sick Children, Toronto, AZ, Canada  Deep Genomics, Toronto, ON, Canada  Montreal Children's Hospital-McGill University Health Centre, Montreal, QC, Canada  SickKids, Toronto, ON, Canada  

Identification of novel compound heterozygous mutation in Niemann-Pick disease type C gene