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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Hlavní autoři: Beaulieu, Chandree L., Majewski, Jacek, Schwartzentruber, Jeremy, Samuels, Mark E., Fernandez, Bridget A., Bernier, Francois P., Brudno, Michael, Knoppers, Bartha, Marcadier, Janet, Dyment, David, Adam, Shelin, Bulman, Dennis E., Jones, Steve J.M., Avard, Denise, Nguyen, Minh Thu, Rousseau, Francois, Marshall, Christian, Wintle, Richard F., Shen, Yaoqing, Scherer, Stephen W., Friedman, Jan M., Michaud, Jacques L., Boycott, Kym M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121481/
https://ncbi.nlm.nih.gov/pubmed/24906018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.05.003
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