Last Posted: Jan 24, 2019
- Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani Priya S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan - The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population
N Jalkh et al, BMC Medical Genomics, January 22, 2019 - UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants
GenomeWeb, January 17, 2019 - Identifying facial phenotypes of genetic disorders using deep learning
Y Gurovich et al, Nature Medicine - 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 - Rare Disease Day at NIH 2019
NIH, 2019 - 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
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