Phenotypic characteristics of FXS-like patients.

Figshare2015-12-02 更新2026-04-29 收录

遗传疾病表型

脆性X综合征

数据链接：

https://figshare.com/articles/dataset/_Phenotypic_characteristics_of_FXS_like_patients_/530438 数据链接链接失效反馈

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Patients enrolled as FXS-like exhibited at least two of these characteristics.

创建时间：

2015-12-02

Data_Cluster_Fragile_X_Stasolla_et_al_2018_JODD.xlsx

脆性X综合征

辅助技术

An assistive technology-based intervention and microswitch-cluster technology for promoting occupation and reducing hand biting of 6 adolescents with fragile X sydrome

DataCite Commons2020-08-28 更新120

Table_1_Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.XLSX

遗传疾病表型

临床诊断标准优化

BackgroundCornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a pati

NIAID Data Ecosystem30

Additional file 1 of Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

遗传疾病表型

基因突变分析

Additional file 1. Summary of clinical findings described in male PORCN patients.

Figshare2022-01-31 更新20

Additional file 4 of Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome

听觉网络

脆性X综合征

Additional file 4. Summary of the statistical analyses used to quantify auditory sensitivity. P values of proportion of total ROIs responsive to all audition (not amplitude specific), and P values of

DataCite Commons2020-09-17 更新50

Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome

脆性X综合征

眼动生物标志物

BackgroundNumerous preclinical studies have supported the theory that enhanced activation of mGluR5 signaling, due to the absence or reduction of the FMR1 protein, contributes to cognitive and behavio

Figshare2019-01-17 更新20

Phenotypic characteristics of FXS-like patients.

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