Results 101 to 110 of about 338,587 (305)
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
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng +4 more
wiley +1 more source
Exploring the Consistent behavior of Information Services
MATEC Web of Conferences, 2016 Computer services are normally assumed to work well all the time. This usually happens for crucial services like bank electronic services, but not necessarily so for others, that there is no commercial interest in their operation.
Kapidakis Sarantos
doaj +1 more source
Publishing Solutions for Contemporary Scholars: The Library as Innovator and Partner
, 2006 What can an academic library contribute to scholarly publishing? The Cornell University Library has engaged in a number of activities in the publishing realm that aim at increasing affordable, effective, widespread, and durable access to research ...
Thomas, Sarah E.
core
Molecular Oncology, EarlyView.RETRACTION: S. Gopinath, K. Alapati, R. R. Malla, C. S. Gondi, S. Mohanam, D. H. Dinh, and J. S. Rao, “Mechanism of p27 Upregulation Induced by Downregulation of Cathepsin B and Upar in Glioma,” Molecular Oncology 5, no. 5 (2011): 426–437, https://doi.org/10.1016/j.molonc.2011.07.004.
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
The College Library as Publisher
College & Research Libraries, 1943 Made available in DSpace on 2012-06-08T21:43:24Z (GMT). No. of bitstreams: 2 license.txt: 4922 bytes, checksum: 910b249b4beec47e7ab768910c8f966f (MD5) crl_5_01_71_opt.pdf: 938632 bytes, checksum: 29ce225efbc2d464a6d5d67d46ca4b20 (MD5) Previous issue date: 1943-12 ; published or submitted for ...
openaire +2 more sources
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Creating and Expanding the Global Library Publishing Map
, 2022 Library publishing activities are growing worldwide. In 2018, the International Federation of Library Associations and Institutions (IFLA) Library Publishing Special Interest Group (LibPub SIG) was established aiming to create a global library publishing
Liu, Guoying, Liu, Shu
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