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Additional file 2: of Mitochondrial mutations in maternally inherited hearing loss

NIAID Data Ecosystem2026-03-10 收录

数据链接：

https://figshare.com/articles/dataset/Additional_file_2_of_Mitochondrial_mutations_in_maternally_inherited_hearing_loss/4769365 数据链接链接失效反馈

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资源简介：

mtDNA variants detected in 5 probands fulfilling the 5 criteria. (XLSX 12Â kb)

应用场景：

创建时间：

2017-03-21

遗传性听力损失

基因变异数据

Hearing loss (HL) is one of the most common disabilities in the world. In industrialized countries, HL occurs in 1–2/1,000 newborns, and approximately 60% of HL is caused by genetic factors. Next gene

NIAID Data Ecosystem80

Summary of the audiological features of affected members of family SH-01.

遗传性听力损失

临床听力学评估

The degree of hearing loss was defined according to pure-tone averages (PTA), which were based on the following four frequencies: 0.5, 1, 2 and 4 kHz. Summary of the audiological features of affected

NIAID Data Ecosystem60

Detect genomic aberrations between PB1 and its counterpart, spindle-chromosome complex in human MII oocyte, PB2 and female pronucleus in human zygote at a single-cell level.. Homo sapiens

极体移植

线粒体遗传病

Inherited mitochondrial DNA (mtDNA) diseases transmit maternally and cause severe phenotypes. Since no effective treatment or genetic screening is available, nuclear genome transfer between patients’

NIAID Data Ecosystem40

Potential treatments and interventions of HHL (Lu et al., 2023)

遗传性听力损失

治疗干预

Purpose: The purpose of this study was to systematically review the research literature with regards to treatments and intervention methods for hereditary hearing loss. Our goal was to provide referen

asha.figshare.com2024-02-13 更新70

Supplementary Material for: Early deficits in speech perception in carriers of the p.Pro51Ser variant in the COCH gene: a prospective longitudinal evaluation of speech perception in quiet and noise.

遗传性听力损失

噪音感知

The primary concern among adults with regard to their hearing is the difficulty in comprehending speech, particularly in noisy environments. The constant need to listen attentively leads to heightened

DataCite Commons2025-01-24 更新40

Additional file 2: of Mitochondrial mutations in maternally inherited hearing loss

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