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Updated: Jul 2, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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RFC1反复扩张在低节拍阴囊综合征:频率和表型特征

David Pellerin1,2, Felix Heindl3, Andreas Traschütz4,5

  • 1Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, QC, Canada.

Journal of neurology
|February 21, 2024
PubMed
概括

双性RFC1扩张是一种常见的基因原因,导致下降性阴囊 (DBN) 综合征,通常表现为小脑功能障碍和阴道膜病变. 这一发现确定了异常性DBN的新遗传基础.

关键词:
联邦政府基金14双边前庭病变 (Vestibulopathy) 是一种双边前庭病变.帆布是一块帆布.大脑小脑动症在GAA-FGF14中出现过敏症.在SCA27B中,它是SCA27B.

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相关概念视频

Pulse rhythm01:30

Pulse rhythm

Pulse rhythm refers to the pattern of pulsations within specific intervals, offering valuable insights into the regularity or irregularity of the heart's beats as observed through the pattern of pulsation within specific intervals. A regular pulse exhibits a consistent heart rate with uniform waveforms and pulsation force, variations of which can be classified as normal, weak, or bounding.
Conversely, an irregular pulse pattern is termed dysrhythmia, stemming from disruptions in cardiac...
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