Elisa Rubinato
Trieste, 34137, Italy
Last Updated: 09/26/2026
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Found 19 publications
Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy.
Journal: Genes
Published: August 06, 2025
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders.
Journal: Audiology research
Published: September 20, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Journal: Audiology research
Published: January 18, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Journal: International journal of pediatric otorhinolaryngology
Published: December 02, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.
Journal: Genes
Published: October 11, 2022
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Journal: BMC pediatrics
Published: August 01, 2022
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.
Journal: Frontiers in pediatrics
Published: June 15, 2022
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Journal: Genes
Published: September 07, 2021
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Journal: European journal of medical genetics
Published: April 14, 2020
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Journal: European journal of medical genetics
Published: November 22, 2018
Last Updated: 09/26/2026