Publications by authors named "Juan Carlos Perin"

3Publications

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.

Proc Natl Acad Sci U S A 2014 Sep 5;111(38):E4033-42. Epub 2014 Sep 5.

Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia and the Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104;

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http://dx.doi.org/10.1073/pnas.1414028111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183335PMC
September 2014

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

Eur J Med Genet 2009 Jul-Aug;52(4):265-8. Epub 2008 Dec 13.

Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800165
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2008.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391973PMC
November 2009