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Diagnostic evaluation of a patient with asyndromic form of neurodevelopmental disorders

ChEBI2021-08-26 更新2026-07-12 收录

罕见神经发育障碍

非综合征型神经发育障碍

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-MTAB-10811 数据链接链接失效反馈

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资源简介：

Diagnostic evaluation of a patient with asyndromic form of neurodevelopmental disorders

应用场景：

创建时间：

2021-08-26

罕见神经发育障碍

基因测序技术评估

ObjectiveThis study is to investigate the diagnostic yield of the combination of trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq) for rare neurodevelopmental disord

NIAID Data Ecosystem70

Studies with ML classification algorithms for distinguishing ASD and ADHD groups described in subsection 1.2.

罕见神经发育障碍

医学分类算法

Studies with ML classification algorithms for distinguishing ASD and ADHD groups described in subsection 1.2.

NIAID Data Ecosystem40

The Two-Arm Coordination Test: Maturation of Bimanual Coordination in Typically Developing Children and Deficits in Children with Unilateral Cerebral Palsy

儿童运动评估

罕见神经发育障碍

Background: Tools to assess bimanual coordination are scant. We aimed to: 1) provide normative data of maturation of bimanual coordination in tipically developing (TD) children measured by the Two Arm

Figshare2018-07-19 更新20

Additional file 2 of Functional characterization of SOX5 variant causing Lamb–Shaffer syndrome and literature review of variants in the SOX5 gene

遗传变异功能验证

罕见神经发育障碍

Supplementary Material 2

Figshare2025-06-11 更新40

Targeted Screening for Fragile X Disorders among Nigerian Children with neurodevelopmental delays and women with suspected FXPOI

脆性X综合征筛查

罕见神经发育障碍

This pilot dataset provides information for targeted screening of Fragile X disorders from sixty-six participants. Sociodemographic characteristics, clinical profiles, and other relevant data were col

Mendeley Data20

Diagnostic evaluation of a patient with asyndromic form of neurodevelopmental disorders

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