Last Posted: Nov 15, 2018
- 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 - Glycomics in rare diseases: from diagnosis to mechanism.
Davids Mariska et al. Translational research : the journal of laboratory and clinical medicine 2018 Oct - Toward personalized medicine in Bardet-Biedl syndrome.
Kenny Joanna et al. Personalized medicine 2017 14(5) 447-456 - Foundation of the Newborn Screening Translational Research Network and its tools for research.
Lloyd-Puryear Michele et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov - Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Nambot Sophie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 20(6) 645-654 - HmtVar: a new resource for human mitochondrial variations and pathogenicity data.
Preste Roberto et al. Nucleic acids research 2018 Oct - Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism.
Adams Dawn et al. Orphanet journal of rare diseases 2018 Oct 13(1) 185 - SCN5A variants in Brugada syndrome: True, true false or false true.
Walsh Roddy T et al. Journal of cardiovascular electrophysiology 2018 Oct - Long read technologies – the next frontier of clinical genome sequencing?
E Johnson, PHG Foundation, October 29, 2018
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