From Genomics & Health Impact Scan Database
This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.
- [Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)].
Szakszon K, et al. Orvosi hetilap 2014 3 (9) 9 - Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML, et al. Orphanet journal of rare diseases 2013 7 - Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Richards CS, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2014 1 (1) 1 - A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, et al. Human mutation 2013 12 (12) 12 - Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM, et al. Orphanet journal of rare diseases 2012 1
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