Last Posted: Feb 19, 2019
- Rare Diseases Are Not Rare!
C Austin, NIH, February 2019
- I have a rare disease. Research on such illnesses can provide insights into more common ones.
SH Bacon, Washington Post, February 15, 2019
- The patient's view on rare disease trial design - a qualitative study.
Gaasterland C M W et al. Orphanet journal of rare diseases 2019 Feb 14(1) 31
- Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
Gainotti Sabina et al. International journal of environmental research and public health 2018 15(10)
- Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.
Klein Christoph et al. EMBO molecular medicine 2018 10(1) 1-3
- Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset Roland et al. Journal of inherited metabolic disease 2019 Jan 42(1) 93-106
- Information and genetic counselling for psychiatric risks in children with rare disorders
A Cuthbert et al, BioRXIV, February 2019
- Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne Aline et al. European journal of human genetics : EJHG 2019 Feb
- Hemophilia carrier's awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d'Ivoire (Ivory Coast).
Lambert Catherine et al. Orphanet journal of rare diseases 2019 Feb 14(1) 26
- Incidental screen positive findings in a prospective cohort study in Matlab, Bangladesh: insights into expanded newborn screening for low-resource settings.
Murphy Malia S Q et al. Orphanet journal of rare diseases 2019 Jan 14(1) 25
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Mar 1, 2018
- Page last updated:Feb 19, 2019
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