Results 111 to 120 of about 361,059 (344)
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Scientific Reports, 2019 Individuals with autism spectrum disorder struggle with motor difficulties throughout the life span, and these motor difficulties may affect independent living skills and quality of life.
Adel Ardalan +3 more
doaj +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley +1 more source
A meta-analysis of areas of structural variation in grey matter in individuals with Autism Spectrum Disorder (ASD) in relation to gene expression of candidate ASD genes [PDF]
, 2021 Elisa Panzeri +7 more
openalex +1 more source
The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa +2 more
wiley +1 more source
Gender diversity and autism spectrum disorder in child and youth population
European PsychiatryIntroduction Interest in the co-occurrence of gender dysphoria and autism spectrum disorder has gained prominence in recent years. Gender dysphoria refers to the distress experienced when there is an incongruence between gender identity and sex assigned
P. R. Rodríguez +4 more
doaj +1 more source
Autism in 2016: the need for answers
Jornal de Pediatria (Versão em Português), 2017 Objective: Autism spectrum disorders are lifelong and often devastating conditions that severely affect social functioning and self‐sufficiency. The etiopathogenesis is presumably multifactorial, resulting from a very complex interaction between genetic ...
Annio Posar, Paola Visconti
doaj +1 more source
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu +6 more
wiley +1 more source
Iranian Journal of Psychiatry, 2018 Objective: This study aimed to identify autistic like traits in relatives of patients with schizophrenia and autism spectrum disorder. Method: causal-comparative research design was utilized.
Zeynab Khanjani +3 more
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