Results 31 to 40 of about 6,543 (239)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
The trade in Far Eastern Art in Berlin during the Weimar Republic (1918-1933)
Journal for Art Market Studies, 2018 The trade in Far Eastern objects of art and consequently the establishment of an art market in Europe originated with the Dutch Verenigde Oostindische Compagnie (V.O.C.) in the seventeenth century.
Patrizia Jirka-Schmitz
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Discovery of circa 115,000-year-old bone retouchers at Lingjing, Henan, China.
PLoS ONE, 2018 Most Chinese lithic industries dated between 300,000 and 40,000 are characterized by the absence of Levallois debitage, the persistence of core-and-flake knapping, the rarity of prepared cores, their reduction with direct hard hammer percussion, and the ...
Luc Doyon +3 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition with widely varying global prevalence estimates. The frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the United States or United Kingdom, at 19 to 39 per 100,000 as opposed ...
Lucinda Roper +7 more
wiley +1 more source
AN EAST ASIAN MATHEMATICAL CONCEPTUALIZATION OF THE TRANSHUMAN
Zygon, 2016 This study explores the transhuman from an East Asian perspective. In terms of cognitive science, mathematics, and theology, we define the transhuman system as characterized by (1) transcendence, (2) extension by compactification, and (3) samtaegeuk ...
doaj +2 more sources
Carsologica Sinica, 2023 In the past few decades, great progress has been made in the study of stalagmite paleoclimate. Compared with the geochemical indicators such as stalagmite δ18O, the average growth rate of stalagmite is a physical indicator, which can directly reflect the
Ying JIANG +5 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Hydroxychloroquine (HCQ) is a cornerstone therapy in systemic lupus erythematosus (SLE), but the weight‐based dosing does not account for clinical factors that can introduce individual variability in drug metabolism and clearance. We leveraged longitudinal data from a prospective SLE cohort to identify clinical factors that predict ...
Jay J. Patel +6 more
wiley +1 more source
Visual attention in 5-year-olds from three different cultures. [PDF]
PLoS ONE, 2018 Cognitive processes differ markedly between children from different cultures, with best evidence for attention to visual scenes and the activities of others. Children from urban Western cultures tend to focus on focal objects, whereas children from urban
Moritz Köster +3 more
doaj +1 more source