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Updated: Jul 26, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在沙特患有的自闭症儿童中,整体外因子测序的分子诊断产量

Asmaa Ali Alharbi1, Maryam Hassan Al-Zahrani1, Maram Mohammed Ebbi2

  • 1Department of Biochemistry, Faculty of Science, King Abdulaziz University, Jeddah First Health Cluster, Saudi Arabia.

International journal of health sciences
|May 9, 2024
PubMed
概括

整体外基因组测序在沙特家庭中发现了患有自闭症谱系障碍和的新型遗传变异. 这项研究有助于更好地理解这些共同发生的疾病的遗传基础.

关键词:
自闭症谱系障碍 自闭症谱系障碍新的变化 De novo 变化沙特阿拉伯家庭的家庭.是一种.整体外因子测序的测序

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Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.