Chiara Perria

Chiara Perria

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Chiara Perria

Chiara Perria

Publications by authors named "Chiara Perria"

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Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.

Am J Med Genet A 2019 Apr 8;179(4):634-638. Epub 2019 Feb 8.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato (CA), Italy.

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http://dx.doi.org/10.1002/ajmg.a.61052DOI Listing
April 2019

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

Mol Genet Metab 2014 Nov 4;113(3):213-8. Epub 2014 Aug 4.

Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2014.07.022DOI Listing
November 2014

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.

Am J Med Genet A 2014 Sep 4;164A(9):2294-9. Epub 2014 Jun 4.

Computational Medicine Center, Thomas Jefferson University, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.36629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4404493PMC
September 2014