Genetic and Genomic Testing

Author:

Yuan Bo,Gu Shen,Kimball Amy,Jabs Ethylin Wang,Eng Christine M.

Publisher

Elsevier

Reference29 articles.

1. Segmental duplications: organization and impact within the current human genome project assembly;Bailey;Genome Res.,2001

2. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies;Chen;Genet. Med.,2022

3. A common molecular basis for rearrangement disorders on chromosome 22q11;Edelmann;Hum. Mol. Genet.,1999

4. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome;Francke;Am. J. Hum. Genet.,1985

5. Chromosome Abnormalities and Genetic Counseling. Oxford Monographs on Medical Genetics No 61;Gardner,2012

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