Results 181 to 190 of about 2,134,838 (346)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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

Painful large traumatic intercostal pulmonary hernia. [PDF]

open access: yesRespir Med Case Rep
Castermans E, Agrafiotis AC, Bruyneel M.
europepmc   +1 more source

Saintes – Église Saint-Eutrope

open access: yesADLFI. Archéologie de la France - Informations, 2021
Montigny, Adrien, Montigny, Adrien
openaire   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani   +10 more
wiley   +1 more source

Association of left atrial volume and function parameters with cardiovascular outcomes following kidney transplantation. [PDF]

open access: yesCardiovasc Ultrasound
DeLonais-Parker AR   +9 more
europepmc   +1 more source

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

open access: yesArthritis Care &Research, EarlyView.
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette   +13 more
wiley   +1 more source

The tip of the iceberg: high-risk contacts for hemorrhagic fevers of swine in the Caribbean. [PDF]

open access: yesVet Res
Arcega Castillo G   +10 more
europepmc   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis 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

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