相关实验视频

Updated: May 17, 2025

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

19.1K

[在有听力神经病变的个体中G6PD突变和表型特征的分布]

D Y Li1, X R Tang2, H Y Wang3

  • 1School of Medicine, Nankai University, Tianjin 300071, China.

Zhonghua yi xue za zhi
|April 3, 2025
PubMed
概括

致病性葡萄糖-6-酸脱酶 (G6PD) 基因突变在4.0%的听力神经病变患者中被发现,主要在中国广西地区. 这些突变可能会通过诸如新生儿高 bilirubinemia 的因素导致听力损失.

更多相关视频

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice08:51

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice

Published on: May 10, 2019

11.6K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

10.9K

相关概念视频

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
38.4K
Pedigree Analysis01:35

Pedigree Analysis

Overview
82.7K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
52.0K
Genetic Lingo01:11

Genetic Lingo

Overview
98.6K
Hearing01:31

Hearing

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
51.5K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
116