- Initiating an undiagnosed diseases program in the Western Australian public health system.
Baynam Gareth et al. Orphanet journal of rare diseases 2017 May 12(1) 83
- Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases.
Alzarka Bakri et al. Frontiers in pediatrics 2017 580
- International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Boycott Kym M et al. American journal of human genetics 2017 May 100(5) 695-705
- Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.
Zurynski Yvonne et al. Orphanet journal of rare diseases 2017 Apr 12(1) 68
- ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42
domingo, 14 de mayo de 2017
Initiating an undiagnosed diseases program in the Western Australian public health system
From 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.