Nasal ciliary beat frequency of USH1 patients and controls.

NIAID Data Ecosystem2026-03-07 收录

Usher综合征

纤毛摆动频率

数据链接：

https://figshare.com/articles/dataset/_Nasal_ciliary_beat_frequency_of_USH1_patients_and_controls_/671195 数据链接链接失效反馈

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资源简介：

Nasal ciliary beat frequency of USH1 patients and controls.

创建时间：

2013-02-25

Table1_Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.XLSX

遗传性耳聋

Usher综合征

The purpose of this study was to expand the mutation spectrum by searching the causative mutations in nine Lebanese families with Usher syndrome (USH) using whole-exome sequencing. The pathogenicity o

NIAID Data Ecosystem330

Usher syndrome study.sav

Usher综合征

健康相关生活质量

The aim of this study was to determine if psychosocial wellbeing predicts the health-related quality of life (HRQOL) of people with Usher syndrome. Ninety UK-resident adults with Usher syndrome were r

DataCite Commons2025-06-01 更新80

Example Outputs

纤毛摆动频率

呼吸道模型

Example outputs for the analysis of cilia beat frequency as described in "Quantification of ciliary beat frequency in differentiated airway epithelial cell models".

DataCite Commons2021-10-22 更新50

Data_Sheet_1_A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.PDF

遗传学

Usher综合征

Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties

NIAID Data Ecosystem90

Patient reported outcomes in Usher Syndrome: a systematic review

Usher综合征

患者报告结果

Usher Syndrome (USH) is a leading cause of deaf-blindness and significantly impacts quality of life. With no cure, it is essential to focus on addressing functional impairments and emotional well-bein

DataCite Commons2025-09-23 更新70

Nasal ciliary beat frequency of USH1 patients and controls.

资源简介：

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