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: 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.
格式: Artigo
語言:Inglês
出版: Elsevier 2014
主題:
Commentary
在線閱讀: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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