Publications by authors named "Roberta Borzone"

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Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.
Gerarda Cappuccio, Sergio Attanasio, Marianna Alagia, Margherita Mutarelli, Roberta Borzone

Eur J Hum Genet· September 2019

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Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Suhail Khoja, Matt Nitzahn, Kip Hermann, Brian Truong, Roberta Borzone

Mol Genet Metab· August 2018

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In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
Roberto Pagliarini, Raffaele Castello, Francesco Napolitano, Roberta Borzone, Patrizia Annunziata

Cell Rep· June 2016

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