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Updated: Jun 4, 2025

Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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单胞双胞胎中GRIN2B神经发育障碍的不同表现:具有独特成像表现型的案例报告

Jernej Avsenik1,2, Mirjana P Benedik3, Mihael Rogač4

  • 1Clinical Institute of Radiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Neuropediatrics
|December 31, 2024
PubMed
概括

患有GRIN2B相关神经发育障碍的单胞胎双胞胎因特定基因变异而表现出不同的大脑形. 这突显了可变的表型和遗传因素在大脑发育中的重要性.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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相关概念视频

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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