Publications by authors named "Alice Urzi"

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Teaching transposon classification as a means to crowd source the curation of repeat annotation - a tardigrade perspective.
Valentina Peona, Jacopo Martelossi, Dareen Almojil, Julia Bocharkina, Ioana Brännström

Mob DNA· May 2024

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A disorder clinically resembling cystic fibrosis caused by biallelic variants in the gene.
Aida Bertoli-Avella, Ronja Hotakainen, Maryam Al Shehhi, Alice Urzi, Catarina Pareira

J Med Genet· October 2022

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Ligia S Almeida, Catarina Pereira, Ruxandra Aanicai, Sabine Schröder, Tomasz Bochinski, Alice Urzi

Eur J Hum Genet· September 2022

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High rate of abnormal findings in Prenatal Exome Trio in low risk pregnancies and apparently normal fetuses.
Noam Vaknin, Noy Azoulay, Erez Tsur, Kornelia Tripolszki, Alice Urzi

Prenat Diagn· May 2022

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Mesencephalic dopaminergic neurons express a repertoire of olfactory receptors and respond to odorant-like molecules.
Alice Grison, Silvia Zucchelli, Alice Urzì, Ilaria Zamparo, Dejan Lazarevic

BMC Genomics· August 2014

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