Elisa Adele Colombo

Elisa Adele Colombo

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Elisa Adele Colombo

Elisa Adele Colombo

Publications by authors named "Elisa Adele Colombo"

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Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Orphanet J Rare Dis 2016 10 7;11(1):136. Epub 2016 Oct 7.

Laboratorio di Citogenetica Medica e Genetica Molecolare, Centro di Ricerche e Tecnologie Biomediche IRCCS-Istituto Auxologico Italiano, Via Zucchi 18, 20095, Cusano Milanino, Italy.

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http://dx.doi.org/10.1186/s13023-016-0514-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054609PMC
October 2016

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.

Br J Haematol 2015 Nov 25;171(4):557-65. Epub 2015 Aug 25.

Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy.

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http://dx.doi.org/10.1111/bjh.13651DOI Listing
November 2015

Clinical utility gene card for: poikiloderma with neutropenia.

Eur J Hum Genet 2013 Oct 16;21(10). Epub 2013 Jan 16.

Department of Health Sciences, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/ejhg.2012.298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778337PMC
October 2013