domingo, 16 de febrero de 2014

Genomics|Update|Current ► Rare Diseases & Translational Genomics


Rare Diseases & Translational Genomics

Thousands of rare genetic diseases collectively affect millions of people in the United States.External Web Site Icon  Find out from the NIH Genetic Testing Registry what are the genetic conditions and genetic tests associated with rare genetic diseases
Identification of genes for childhood heritable diseases.External Web Site Icon 
Kym M. Boycott et al, Annual Review of Medicine Vol. 65: 19-31 (2014) 
Free diagnostic exome sequencing for US rare disease patients,External Web Site Icon by Dr Philippa Brice, PHG Foundation, Feb 10
Technology is helping to give genetic disorders a name,External Web Site Icon by Philippa Roxby, Health reporter, BBC News, Feb 1
Rare diseases in clinical practice,External Web Site Icon from the National Genetics and Genomics Resource Center, UK

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