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