Results 181 to 190 of about 59,116 (255)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

open access: yesClinical Genetics, EarlyView.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda   +10 more
wiley   +1 more source

Phenotypic Characterization of Five Children With PACS1‐NDD: Longitudinal Insights Into Development, Behavior, and Brain

open access: yesClinical Genetics, EarlyView.
Longitudinal multimodal assessment of five children with PACS1‐NDD revealed global developmental delays, prominent restricted and repetitive behaviors, relatively preserved social interest, heterogeneous language trajectories, and reduced gray and white matter volumes.
Fiona Journal   +4 more
wiley   +1 more source

Instruments assessing mobility of children and adolescents with autism spectrum disorder: A systematic review and decision map

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify the standardized instruments used to assess mobility aspects in children and adolescents with autism spectrum disorder (ASD), analyse the quality of their psychometric properties and their level of evidence, and develop a clinical decision map for these instruments.
Arthur Felipe Barroso de Lima   +4 more
wiley   +1 more source

Instrumentos que avaliam a mobilidade de crianças e adolescentes com transtorno do espectro autista: Uma revisão sistemática e mapa de decisão

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Objetivos Identificar os instrumentos padronizados usados para avaliar aspectos de mobilidade em crianças e adolescentes com transtorno do espectro autista (TEA), analisar a qualidade de suas propriedades psicométricas e seu nível de evidência, e desenvolver um mapa de decisão clínica para esses instrumentos.
Arthur Felipe Barroso de Lima   +4 more
wiley   +1 more source

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