Complex genomic rearrangements: an underestimated cause of rare diseases
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference101 articles.
1. Mechanisms for recurrent and complex human genomic rearrangements;Liu;Curr.Opin. Genet. Dev.,2012
2. Mechanisms underlying structural variant formation in genomic disorders;Carvalho;Nat. Rev. Genet.,2016
3. Complex chromosomal rearrangements: origin and meiotic behavior;Pellestor;Hum. Reprod. Update,2011
4. Delineation of complex chromosomal rearrangements: evidence for increased complexity;Astbury;Hum. Genet.,2004
5. De novo balanced chromosome rearrangements in prenatal diagnosis;Giardino;Prenat. Diagn.,2009
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