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Updated: Oct 10, 2026

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

Published on: December 1, 2017

A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy?

D Broere1, W G van Gemert, C M Kneepkens

  • 1Department of Paediatric Neurology, Academic Hospital, Free University of Amsterdam, The Netherlands. mvwegen@xs4all.nl

European Journal of Pediatrics
|December 29, 2000
PubMed
Abstract

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