专题：Williams Syndrome Research

This cluster of papers explores the genetic, neurodevelopmental, cognitive, and behavioral aspects of Williams Syndrome. It covers topics such as the cognitive profile, social cognition, visuospatial processing, neuroanatomy, cardiovascular abnormalities, hypersociability, and language abilities associated with Williams Syndrome.
最新文献
A Rare Heterozygous MYH11 Missense Variant in a Patient With Recurrent Strokes, Intracerebral Arterial Pathology, and Aortic Aneurysm

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Using the cognitive rigidity-flexibility dimension to deepen our understanding of the autism spectrum

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Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders

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Integrating machine learning and WGCNA for nomogram diagnostic model unveiling previously unrecognized phase separation-related molecular markers and immuno-cytotoxic pathways in Williams-Beuren syndrome

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Computerized-assisted technology of virtual reality on memory in people with Williams syndrome

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Profiling Language Skills in Minimally Verbal Autism: Findings From Greek-Speaking Preschoolers

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Manifestações oftalmológicas em 6 pacientes com diagnóstico de síndrome de Williams-Beuren e revisão da literatura

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Anxiety in Young Children with Williams Syndrome: A Longitudinal Study

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Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature Review

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Genetic and Gender Influences on Hypertrophic Cardiomyopathy: A Comprehensive Population-based Study of Clinical Outcomes and Implications

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近5年高被引文献
Williams syndrome

review Full Text OpenAlex 190 FWCI7.038

Autism‐related language preferences of English‐speaking individuals across the globe: A mixed methods investigation

article Full Text OpenAlex 129 FWCI16.283

Exclusion of females in autism research: Empirical evidence for a “leaky” recruitment‐to‐research pipeline

article Full Text OpenAlex 113 FWCI14.12

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy

article Full Text OpenAlex 103 FWCI15.068

What Do New Findings About Social Interaction in Autistic Adults Mean for Neurodevelopmental Research?

article Full Text OpenAlex 103 FWCI8.507

Targeting the sarcomere in inherited cardiomyopathies

review Full Text OpenAlex 100 FWCI6.345

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

review Full Text OpenAlex 95 FWCI4.48

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

article Full Text OpenAlex 92 FWCI12.5

MyelTracer: A Semi-Automated Software for Myeling-Ratio Quantification

article Full Text OpenAlex 81 FWCI6.017

Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study

review Full Text OpenAlex 80 FWCI8.343