Results 181 to 190 of about 3,239,321 (318)

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

open access: yesAnnals of Neurology, EarlyView.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge   +11 more
wiley   +1 more source

Is OpenAlex suitable for research quality evaluation and which citation indicator is best?

open access: yesJournal of the Association for Information Science and Technology, EarlyView.
Abstract This article compares (1) citation analysis with OpenAlex and Scopus, testing their citation counts, document type/coverage, and subject classifications and (2) three citation‐based indicators: raw counts, (field and year) Normalized Citation Scores (NCS), and Normalized Log‐transformed Citation Scores (NLCS).
Mike Thelwall, Xiaorui Jiang
wiley   +1 more source

What Is the Impact of Second Language Exposure and Intellectual Disability Status on Executive Function and Functional Communication Outcomes in Children and Adolescents With and Without Autism Spectrum Disorder (ASD)?

open access: yesAutism Research, EarlyView.
ABSTRACT Over the past 10 years, research has suggested no negative effect on second language exposure in children with autism spectrum disorder (ASD), yet, parents and professionals may be concerned that using a second language with a child with ASD may negatively impact their communication and cognitive skills, especially if the child also has an ...
Sarah M. Hutchison   +3 more
wiley   +1 more source

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