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Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a fou... by Matthew Tung, Filip Van Petegem, Samantha Lauson, Ashley Collier, Kathy Hodgkinson, Bridget Fernandez, Sean Connors, Rick Leather, Shubhayan Sanatani, Laura Arbour
Published 2020-04-01
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Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss by Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin, Terry-Lynn Young
Published 2019-05-01
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A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees by Marc Woodbury-Smith, Andrew D. Paterson, Irene O’Connor, Mehdi Zarrei, Ryan K. C. Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W. Scherer, Veronica Vieland, Peter Szatmari
Published 2018-06-01
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