Last Posted: Sep 01, 2018
- Facial recognition zeroes in on genetic disorders
J Saltzman, Boston Globe, August 30, 2018 - What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children
S Grosse, CDC Blog, 2018 - Genetic secrets of long-term glioblastoma survivors.
Jovcevska Ivana et al. Bosnian journal of basic medical sciences 2018 Aug - Just 21 People Are Known to Have This Rare Genetic Condition. Can You Help Us Find More?
L Sanders, New York Times, August, 2018 - SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
López-Martín Estrella et al. International journal of environmental research and public health 2018 Aug 15(8) - Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics
ACMG, Genetics in Medicine, August 22, 2018 - 35 Years & Growing: Personal Stories of Patient Advocacy
National Organization for Rare Diseases, 2018 - A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.
Papa Riccardo et al. Orphanet journal of rare diseases 2017 12(1) 167 - Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
Potter Beth K et al. Trials 2017 Dec 18(1) 603 - Recommendations for the Management of Rare Kidney Cancers.
Giles Rachel H et al. European urology 2017 72(6) 974-983
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