Results 151 to 160 of about 1,320,249 (296)

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini   +9 more
wiley   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar   +7 more
wiley   +1 more source

Investigation of native defects and property of bulk ZnO single crystal grown by a closed chemical vapor transport method

open access: yes, 2008
Hall effect, Raman scattering, photoluminescence spectroscopy (PL), optical absorption (OA), mass spectroscopy, and X-ray diffraction have been used to study bulk ZnO single crystal grown by a closed chemical vapor transport method.
Zhao, YW   +4 more
core  

Health Care Use Among Patients Presenting to Emergency Department for Gout Flares in Ontario, Canada: A Population‐Based Health Systems Analysis

open access: yesArthritis Care &Research, EarlyView.
Objective We characterized emergency department (ED) gout visits and identified patient characteristics and health services patterns contributing to ED presentations. Methods We conducted a population‐based study of ED gout visits in Ontario, Canada, between 2014 and 2023.
Timothy S. H. Kwok   +7 more
wiley   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

open access: yesArthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo   +9 more
wiley   +1 more source

Defect-mediated generation-recombination dynamics governing conductance response in floating-body transistors. [PDF]

open access: yesMicrosyst Nanoeng
Kwak B   +8 more
europepmc   +1 more source

Anorectal Dysfunction in Systemic Sclerosis: Clinical Phenotypes and Functional Patterns

open access: yesArthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize specific physiologic defects in anorectal dysfunction in systemic sclerosis (SSc) using anorectal manometry (ARM), evaluate associations with gastrointestinal (GI) and extraintestinal clinical phenotypes, and explore potential serologic markers for risk stratification.
Timothy Kaniecki   +6 more
wiley   +1 more source

Time of flight diffraction and imaging (TOFDI) [PDF]

open access: yes
Time of flight diffraction and imaging (TOFDI) is based on time of flight diffraction (TOFD), adding cross-sectional imaging of the sample bulk by exploiting the scattering of ultrasonic waves from bulk defects in metals.
Petcher, P. A.
core  

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