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Giorgia Girotto

University of Trieste

Italy

Research Interests

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Professors in Italy Professors in Epidemiology Epidemiology professors in Italy

Articles (29)

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Collaborators (31)

Guy Van Camp

Professor

University of Antwerp

BELGIUM

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Anne-Francoise Roux

Université de Montpellier

FRANCE

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MIGUEL ANGEL MORENO-PELAYO

HEAD OF DEPARTMENT

HOSPITAL UNIVERSITARIO RAMÓN Y CAJAL

SPAIN

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PAOLO BOSCOLO RIZZO

Associate Professor

Università degli Studi di Torino

ITALY

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Cristina Dallabona

University of Parma

ITALY

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Dominika Oziębło

Institute of Physiology and Pathology of Hearing

POLAND

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Gabriella Zito

ITALY

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Silvia Dossena

Paracelsus Medical University

AUSTRIA

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Helena Caria

Prof. Coordenador com Agregação/Full Professor

PORTUGAL

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MIRKO ALDE'

University of Milan

ITALY

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Monika Ołdak

Head of the Department

Institute of Physiology and Pathology of Hearing

POLAND

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Milena Cadenaro

University of Trieste

ITALY

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An Boudewyns

Antwerp University Hospital

BELGIUM

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Alessandra Coiana

Ricercatori

University of Cagliari

ITALY

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Alessandra Minelli

Assistant professor of psychobiology

University of Brescia

ITALY

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Alessandro Martini

full Professor of ORL and honorary Professor

University of Padova

ITALY

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Federica Romano

University of Turin

ITALY

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giancarlo tirelli

Chief

University of Trieste

ITALY

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Federica Baldan

Università degli Studi di Udine

ITALY

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catia mio

University of Udine

ITALY

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maria pina concas

Institute for Maternal and child health Irccs Burlo Garofolo

ITALY

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Gianfranco Sinagra

University of Trieste

ITALY

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Sebastian Roesch

University Hospital Regensburg

GERMANY

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Lucia Pozzan

University of Trieste

ITALY

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Davide Mei

Dirigente Professioni Sanitarie Tecnico Diagnostiche

ITALY

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Adamo Pio d'Adamo

Università degli Studi di Torino

ITALY

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Saba Battelino

SLOVENIA

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Flavio Faletra

Docenti di ruolo di IIa fascia

University of Udine

ITALY

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Katarina Trebušak Podkrajšek

Professor

University of Ljubljana

SLOVENIA

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Beatrice Spedicati

University of Trieste

ITALY

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martina magistrati

University of Parma

ITALY

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Giorgia Girotto

Research Interests

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Articles (29)

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations

Reply to Small, K.W. Comment on “Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel PRDM13 and CCNC Duplication. Biomedicines 2025, 13, 1904”

Presbycusis Across the Lifespan: Genetic, Molecular, and Multi-Omics Contributions

Association of Single-Nucleotide Polymorphisms in Sweet Taste Perception and Intake Genes with Primary Ciliary Dyskinesia and Its Clinical Phenotypes

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance

A Complete Picture of the CYP2D6 Heterogeneity in Northeastern Italian Genetic Isolates

Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays

A Hitchhiker Guide to Structural Variant Calling: A Comprehensive Benchmark Through Different Sequencing Technologies

Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication

Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature Review

Scent of COVID-19: Whole-Genome Sequencing Analysis Reveals the Role of ACE2, IFI44, and NDUFAF4 in Long-Lasting Olfactory Dysfunction

Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy

Beyond the Curtains: Identification of the Genetic Cause of Foetal Developmental Abnormalities Through the Application of Molecular Autopsy

The Bittersweet Symphony of COVID-19: Associations between TAS1Rs and TAS2R38 Genetic Variations and COVID-19 Symptoms

TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia

Clenching the Strings of Bruxism Etiopathogenesis: Association Analyses on Genetics and Environmental Risk Factors in a Deeply Characterized Italian Cohort

In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

Odontostomatological Traits in North-Eastern Italy’s Isolated Populations: An Epidemiological Cross-Sectional Study

Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders

Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort

Whole‐exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

Genetic Dissection of Temperament Personality Traits in Italian Isolates

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

Collaborators (31)

Guy Van Camp

Anne-Francoise Roux

MIGUEL ANGEL MORENO-PELAYO

PAOLO BOSCOLO RIZZO

Cristina Dallabona

Dominika Oziębło

Gabriella Zito

Silvia Dossena

Helena Caria

MIRKO ALDE'

Monika Ołdak

Milena Cadenaro

An Boudewyns

Alessandra Coiana

Alessandra Minelli

Alessandro Martini

Federica Romano

giancarlo tirelli

Federica Baldan

catia mio

maria pina concas

Gianfranco Sinagra

Sebastian Roesch

Lucia Pozzan

Davide Mei

Adamo Pio d'Adamo

Saba Battelino

Flavio Faletra

Katarina Trebušak Podkrajšek

Beatrice Spedicati

martina magistrati

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