Last Posted: Dec 19, 2018
- Medical Detectives: The Last Hope For Families Coping With Rare Diseases,
NPR, December 17, 2018 - Diagnosing rare diseases after the exome
Molecular Case Studies, Cold Spring Harbor, 2018 - Medical Detectives: The Last Hope For Families Coping With Rare Diseases
L McClurg, NPR, December 17, 2018 - Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project.
Dheensa Sandi et al. European journal of medical genetics 2018 Nov - Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug (1) 149 - Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov - Genetics meets dna methylation in rare diseases.
Velasco Guillaume et al. Clinical genetics 2018 Nov - Modern methods in diagnostics and research of molecular bases of rare diseases.
Kmoch Stanislav et al. Casopis lekaru ceskych 2018 157(3) 133-136 - From scientific discovery to treatments for rare diseases - the view from the National Center for Advancing Translational Sciences - Office of Rare Diseases Research.
Kaufmann Petra et al. Orphanet journal of rare diseases 2018 Nov 13(1) 196 - Impact of biobanks on research outcomes in rare diseases: a systematic review.
Garcia Monique et al. Orphanet journal of rare diseases 2018 Nov 13(1) 202
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