Publications by authors named "Maria D Perrone"

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Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
Roberta Bottega, Maria D Perrone, Katy Vecchiato, Andrea Taddio, Subrata Sabui

J Hum Genet· November 2019

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Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Maria Dolores Perrone

Genome Med· July 2017

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De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.
Antonella Fabretto, Maria Santa Rocca, Maria Dolores Perrone, Aldo Skabar, Vanna Pecile

Am J Med Genet A· April 2012

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Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.
Flavio Faletra, Adamo Pio D'Adamo, Maria Santa Rocca, Marco Carrozzi, Maria Dolores Perrone

Am J Med Genet A· February 2012

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