Last Posted: May 17, 2019
- Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Yuskiv Nataliya et al. Orphanet journal of rare diseases 2019 14(1) 7
- Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients.
Paquin Ryan S et al. Orphanet journal of rare diseases 2019 May 14(1) 102
- Protocol for a scoping review of multi-omic analysis for rare diseases.
Kerr Katie et al. BMJ open 2019 May 9(5) e026278
- Genetic counseling job market in the United States and Canada: An analysis of job advertisements 2014-2016.
Burns Kaitlyn et al. Journal of genetic counseling 2019 May
- Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders.
Bastida José María et al. Seminars in thrombosis and hemostasis 2019 Apr
- A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.
Auvin Stéphane et al. Orphanet journal of rare diseases 2019 Apr 14(1) 91
- Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium.
Vandeborne Liese et al. Orphanet journal of rare diseases 2019 May 14(1) 99
- eDiVA - Classification and Prioritization of Pathogenic Variants for Clinical Diagnostics.
Bosio Mattia et al. Human mutation 2019 Apr
- Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS .
van Kuilenburg André B P et al. The New England journal of medicine 2019 380(15) 1433-1441
- How pharmaceutical industry financial modelers think about your rare disease
Eric Minikel, Blog, April 29, 2019
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Disclaimer: Articles listed in the Public Health Genomics and Precision 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.
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