Nadia Passon
Udine, Italy
Last Updated: 09/26/2026
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Found 20 publications
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.
Journal: Gene
Published: July 31, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Journal: Journal of human genetics
Published: November 20, 2023
Novel IGFALS mutations with predicted pathogenetic effects by the analysis of AlphaFold structure.
Journal: Endocrine
Published: May 24, 2022
Dystonic tremor and blepharospasm in a patient with deletion of 18q.
Journal: Clinical neurology and neurosurgery
Published: May 21, 2022
NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome.
Journal: Clinical genetics
Published: January 07, 2021
A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.
Journal: Molecular genetics & genomic medicine
Published: December 21, 2020
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.
Journal: European journal of human genetics : EJHG
Published: March 31, 2020
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers.
Journal: European journal of medical genetics
Published: July 03, 2019
Quantitative PCR evaluation of deletions/duplications identified by array CGH.
Journal: Molecular and cellular probes
Published: April 09, 2019
Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder.
Journal: Cytogenetic and genome research
Published: March 08, 2018
Evaluation of somatic genomic imbalances in thyroid carcinomas of follicular origin by CGH-based approaches.
Journal: Minerva endocrinologica
Published: September 08, 2017
Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy.
Journal: Molecular syndromology
Published: November 16, 2016
Last Updated: 09/26/2026