Last Posted: Jan 03, 2019
- Whole-genome sequencing of rare disease patients in a national healthcare system
WH Ouwehand et al, BioRXIV preprints, January 1, 2019 - Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.
Fatania Gavin et al. Intractable & rare diseases research 2018 Nov 7(4) 236-244 - 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.
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