Last Posted: Jan 09, 2019
- Rare Disease Day at NIH 2019
NIH, 2019 - Leveraging Evidence-Based Public Policy and Advocacy to Advance Newborn Screening in California.
Bronstein Max G et al. Pediatrics 2019 Jan - Next generation sequencing and imprinting disorders: Current applications and future perspectives: Lessons from Silver-Russell syndrome.
Neuheuser Lea et al. Molecular and cellular probes 2019 Jan - Regenerative Medicine Therapies for Rare Diseases.
Lapteva Larissa et al. Translational science of rare diseases 2018 Dec 3(3-4) 121-132 - Rare Disease Day 2019 theme announced: Bridging health and social care
Rare Disease Day 2019 - AI face-scanning app spots signs of rare genetic disorders- Deep-learning algorithm helps to diagnose conditions that aren’t readily apparent to doctors or researchers.
E Dolgin, Nature News, January 7, 2019 - Identifying facial phenotypes of genetic disorders using deep learning
Y Gurovich et al, Nature Medicine - 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
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