Ivana Spiga

Ivana Spiga

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Ivana Spiga

Ivana Spiga

Publications by authors named "Ivana Spiga"

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Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

EJIFCC 2018 Apr 30;29(1):15-25. Epub 2018 Apr 30.

Unit of Genomics for Human Disease Diagnosis, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949615PMC
April 2018

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Hum Mutat 2016 Jan 4;37(1):16-27. Epub 2015 Nov 4.

San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1002/humu.22919DOI Listing
January 2016

High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene.

Clin Chem Lab Med 2010 Oct 27;48(10):1415-8. Epub 2010 Jun 27.

San Raffaele Scientific Institute, Center for Genomics, Bioinformatics and Biostatistics, Genomic Unit for the Diagnosis of Human Pathologies, Milan, Italy.

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http://dx.doi.org/10.1515/CCLM.2010.281DOI Listing
October 2010