Publications by authors named "Elide Spinelli"

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Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
Isabella Zanella, Francesca Merola, Giorgio Biasiotto, Silvana Archetti, Elide Spinelli

Exp Mol Pathol· April 2017

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Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.
Marco Savarese, Elide Spinelli, Federico Gandolfo, Valentina Lemma, Giuseppina Di Fruscio

Ophthalmic Genet· September 2014

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18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report.
Elide Spinelli, Silviana Timpano, Annalisa Fogazzi, Silvia Dester, Susanna Milianti

Ital J Pediatr· May 2011

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CFTR mutation in an Arab patient: clinical and functional features of 875+1G-->A/875+1G-->A genotype.
Elide Spinelli, Manuela Seia, Paola Melotti, Eleonora Marchina, Rita Padoan

J Cyst Fibros· July 2009

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Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
Eleonora Marchina, Alessandro Gambera, Elide Spinelli, Paola Clerici, Pasquale Scagliola

Fertil Steril· March 2009

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