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Updated: Sep 5, 2025

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

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Complex genomic rearrangements: an underestimated cause of rare diseases

Jakob Schuy1, Christopher M Grochowski2, Claudia M B Carvalho3

  • 1Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

Trends in Genetics : TIG
|July 12, 2022
PubMed

Keywords:
chromosomal abnormalitiesclinical diagnosticsconstitutional diseasesgenomic disordersstructural variationwhole-genome sequencing

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