Title : Rare Disease Day 2018
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Rare Disease Day 2018
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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.
- Genetics in primary health care and the National Policy on Comprehensive Care for People with Rare Diseases in Brazil: opportunities and challenges for professional education.
Melo Débora Gusmão et al. J Community Genet 2015 Apr 18. - Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
Nampoothiri S, et al. American journal of medical genetics. Part A 2014 9 (9) 9 - [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 - 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
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