- 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
sábado, 24 de febrero de 2018
Rare Disease Day 2018
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.