Last Posted: Feb 03, 2019
- One In a Million
University of Utah, 2019 - Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
Sobrido María-Jesús et al. Orphanet journal of rare diseases 2019 Jan 14(1) 20 - 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 - Evidence-based data and rare cancers: The need for a new methodological approach in research and investigation.
Mathoulin-Pélissier S et al. European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology 2019 45(1) 22-30 - 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
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