Publications by authors named "P Ronchetto"

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LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.
Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Patrizia Ronchetto

NPJ Genom Med· February 2025

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Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Elisa Tassano, Sara Uccella, Patrizia Ronchetto, Joana Soraia Martinheira Da Silva, Silvia Viaggi

Cytogenet Genome Res· October 2022

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An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Federica Ruscitti, Maria Cerminara, Maria Iascone, Laura Pezzoli, Giulia Rosti, Patrizia Ronchetto

Birth Defects Res· July 2022

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Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.
E Tassano, P Ronchetto, M Severino, M T Divizia, M Lerone

Bone· September 2021

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Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Martina Servetti, Livia Pisciotta, Elisa Tassano, Maria Cerminara, Lino Nobili, Patrizia Ronchetto

Front Genet· September 2021

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