Results 111 to 120 of about 25,633 (243)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

open access: yesMovement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard   +33 more
wiley   +1 more source

Late INa as a Therapeutic Target: New Strategies, Computational Modelling, Drug Development, and Clinical Translation

open access: yesMedicinal Research Reviews, EarlyView.
ABSTRACT The Nav1.5 channel, a major isoform of voltage‐gated sodium ion channel, is mainly found in ventricular cardiomyocytes, playing a key role in generating essential cardiac action potentials for normal heart rhythms. Mutations in Nav1.5 have been associated with severe heart conditions such as long QT syndrome, Brugada syndrome, cardiac ...
Arkapravo Chattopadhyay   +3 more
wiley   +1 more source

At‐Home Versus in‐Clinic Vital Capacity Measurement: Insights From the HEALEY ALS Platform Trial

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Respiratory weakness, typically monitored as vital capacity (VC), is a central feature of amyotrophic lateral sclerosis (ALS). VC is increasingly measured remotely in participants' homes, although in‐clinic assessment remains the standard.
Eric A. Macklin   +269 more
wiley   +1 more source

Composição volátil dos defeitos intrínsecos do café por CG/EM-headspace Volatile composition of intrinsic defective coffee beans by GC/MS-headspace

open access: yesQuímica Nova, 2009
About 20% of Brazilian raw coffee production is considered inappropriate for exportation. Consequently, these beans are incorporated to good quality beans in the Brazilian market. This by-product of coffee industry is called PVA due to the presence of black (P), green (V) and sour (A) defective beans which are known to contribute considerably for cup ...
Raquel D. C. C. Bandeira   +3 more
openaire   +1 more source

Perioperative Adverse Events in Primary Palatoplasty: “Risk Factors and Impact on Care Escalation in a Multicenter Cohort”

open access: yesPediatric Anesthesia, EarlyView.
ABSTRACT Background Patients undergoing palatoplasty experience perioperative adverse events. Identifying risk factors for perioperative adverse events and escalation of care may improve outcomes. Methods Pediatric patients undergoing primary palatoplasty were included in this retrospective observational study performed at two academic children's ...
Febina Padiyath   +17 more
wiley   +1 more source

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan   +10 more
wiley   +1 more source

Open letter: The need for a site‐based biodiversity standard measuring and certifying impacts from nature‐based projects

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Despite growing investment in restoration, weak accountability and poor biodiversity monitoring mean many projects fail to achieve ecological recovery. The Global Biodiversity Standard (TGBS) offers a practical way to ensure that restoration finance delivers measurable gains for nature.
David Bartholomew   +254 more
wiley   +1 more source

Preliminary Appraisal of a Correlation Between Glaciations and Large Igneous Provinces Over the Past 720 Million Years

open access: yesGeophysical Monograph Series, Page 169-190., 2021

Exploring the links between Large Igneous Provinces and dramatic environmental impact

An emerging consensus suggests that Large Igneous Provinces (LIPs) and Silicic LIPs (SLIPs) are a significant driver of dramatic global environmental and biological changes, including mass extinctions.
Nasrrddine Youbi   +9 more
wiley  

+1 more source

Determinação de carbamato de etila em aguardentes de cana por CG-EM Determination of ethyl carbamate in sugar cane spirits by GC-MS

open access: yesQuímica Nova, 2008
A simple, specific and sensitive GC-MS procedure with ion m/z 62 was validated for the determination of ethyl carbamate (EC) in spirits. It exhibited linearity over the concentration of 30 to 600 μg/L with 30 μg/L limit of quantification. EC was detected in 70 of the 71 samples analyzed with levels from 33 to 2609 μg/L (mean level = 893 &
Renata Adriana Labanca   +2 more
openaire   +1 more source

Performance of pyDock in 8th CAPRI: Energy‐Based Scoring Applied to Docking and AlphaFold Models

open access: yesProteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The 8th CAPRI edition has shown a significant evolution in the field of protein–protein complex structure prediction. We have participated in all 11 targets proposed in this edition, involving domain‐domain, protein–protein, protein‐peptide, and protein‐DNA interactions, including homo‐ and hetero‐meric interfaces.
Luis Angel Rodríguez‐Lumbreras   +5 more
wiley   +1 more source

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