The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms

Advances in genomics have transformed our ability to identify the genetic causes of rare diseases (RDs), yet we have a limited understanding of the mechanistic roles of most genes in health and disease. When a novel RD gene is first discovered, there is minimal insight into its biological function,...

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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: Boycott, Kym M., Campeau, Philippe M., Howley, Heather E., Pavlidis, Paul, Rogic, Sanja, Oriel, Christine, Berman, Jason N., Hamilton, Robert M., Hicks, Geoffrey G., Lipshitz, Howard D., Masson, Jean-Yves, Shoubridge, Eric. A., Junker, Anne, Leroux, Michel R., McMaster, Christopher R., Michaud, Jaques L., Turvey, Stuart E., Dyment, David, Innes, A. Micheil, van Karnebeek, Clara D., Lehman, Anna, Cohn, Ronald D., MacDonald, Ian M., Rachubinski, Richard A., Frosk, Patrick, Vandersteen, Anthony, Wozniak, Richard W., Pena, Izabella A., Wen, Xiao-Yan, Lacaze-Masmonteil, Thierry, Rankin, Catharine, Hieter, Philip
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2020
Konular:
Commentary
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7010971/
https://ncbi.nlm.nih.gov/pubmed/32032513
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.01.009
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