Results 111 to 120 of about 25,633 (243)
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
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
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
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
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
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan +10 more
wiley +1 more source
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
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
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
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

