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Updated: Jun 19, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay,

Cybel Mehawej1, Joy El Maalouf2, Mohamad Abdelkhalik2

  • 1Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos P.O. Box 36, Lebanon.

Genes
|July 27, 2024
PubMed
Abstract

Keywords:
X chromosome duplicationcopy number variantexome sequencinggenetic counselingsex reversal

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