Last Posted: Aug 01, 2019
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181 - Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.
Lewis Celine et al. Clinical genetics 2019 Jul - International Guidelines for the Treatment of Huntington's Disease.
Bachoud-Lévi Anne-Catherine et al. Frontiers in neurology 2019 10710 - The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Schwarze Katharina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul - Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor John et al. Genome medicine 2019 Jul 11(1) 46 - How an AI expert took on his toughest project ever: writing code to save his son’s life
C Ross, Stat News, July 25, 2019 - How an AI expert took on his toughest project ever: writing code to save his son’s life,
by Casey Ross, Stats News, July 25, 2019 - National platform for Rare Diseases Data Registry of Japan.
Furusawa Yoshihiko et al. Learning health systems 2019 Jul 3(3) e10080 - The Era of the Genome and Dental Medicine.
Divaris K et al. Journal of dental research 2019 Aug 98(9) 949-955 - Quantitative analysis of a rare disease network's international contact database and E-repository provides insights into biobanking in the electronic consent era.
Suarez Alexander et al. Orphanet journal of rare diseases 2019 Jul 14(1) 173
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