Ilaria Stanghellini
Modena, 41124, Italy
Last Updated: 09/26/2026
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Found 11 publications
Idiopathic Pulmonary Fibrosis: Analysis of Predisposing Variants in Patients with Familial Forms.
Journal: Biomedicines
Published: November 18, 2025
Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross-Sectional Study and Systematic Literature Review.
Journal: American journal of medical genetics. Part A
Published: July 28, 2025
Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity.
Journal: Hormone research in paediatrics
Published: March 30, 2021
A mild phenotype of sensorineural hearing loss and palmoplantar keratoderma caused by a novel GJB2 dominant mutation.
Journal: Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale
Published: August 09, 2016
Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.
Journal: European journal of medical genetics
Published: May 09, 2015
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
Journal: Current genomics
Published: March 31, 2015
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester.
Journal: The journal of obstetrics and gynaecology research
Published: February 20, 2015
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
Journal: Genetic testing and molecular biomarkers
Published: November 18, 2014
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.
Journal: Italian journal of pediatrics
Published: November 21, 2013
Reiterative changes in the Italian regulation on IVF: the effect on PGD patients' reproductive decisions.
Journal: Reproductive biomedicine online
Published: April 05, 2013
DNA integrity is maintained after freeze-drying of human spermatozoa.
Journal: Fertility and sterility
Published: December 01, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026