FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular diagnosis because of the rarity of the disease, the marked clinical heterogeneity, and the reality that there are...

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Main Authors: Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, François Bernier, Michael Brudno, Bartha Maria Knoppers, Janet Marcadier, David A. Dyment, Shelin Adam, Dennis E. Bulman, Steven J.M. Jones, Denise Avard, Minh Thu Nguyen, François Rousseau, Christian R. Marshall, Richard F. Wintle, Yaoqing Shen, Stephen W. Scherer, Jan M. Friedman, Jacques L. Michaud, Kym M. Boycott
Format: Artigo
Language:English
Published: 2014
Online Access:https://doi.org/10.1016/j.ajhg.2014.05.003
https://www.cell.com/article/S0002929714002237/pdf
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https://doi.org/10.1016/j.ajhg.2014.05.003
https://www.cell.com/article/S0002929714002237/pdf

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