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Updated: Sep 27, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial

Monica Marini1, Roberto Cusano, Pierangela De Biasio

  • 1Laboratorio di Genetica Molecolare, Istituto G Gaslini, Genova, Italy.

American Journal of Medical Genetics. Part A
|February 5, 2003
PubMed

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