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Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.
The New England Journal of Medicine|June 5, 2024
Genome Sequencing for Diagnosing Rare DiseasesMonica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
JAMA|July 12, 2013
The state of US health, 1990-2010: burden of diseases, injuries, and risk factorsChristopher J L Murray, Charles Atkinson, Kavi Bhalla, et al.
Lancet (London, England)|December 19, 2012
Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010Rafael Lozano, Mohsen Naghavi, Kyle Foreman, et al.
Lancet (London, England)|December 19, 2012
Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Theo Vos, Abraham D Flaxman, Mohsen Naghavi, et al.
Lancet (London, England)|December 19, 2012
Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010Christopher J L Murray, Theo Vos, Rafael Lozano, et al.
Biological Conservation|May 26, 2021
Global COVID-19 lockdown highlights humans as both threats and custodians of the environmentAmanda E Bates, Richard B Primack, Brandy S Biggar, et al.
Lancet (London, England)|September 1, 2015
Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries, 1990-2013: quantifying the epidemiological transition, Christopher J L Murray, Ryan M Barber, et al.
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