Roberta Onesimo

Agostino Gemelli University Polyclinic

Italy

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Articles (10)

Year:

2025

Year:

2025

Year:

2024

Year:

2024

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2024

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2024

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2023

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2023

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2023

Year:

2023

Collaborators (5)

ELISABETTA SFORZA

Università Cattolica del Sacro Cuore

ITALY

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Marco Tartaglia

Head

Ospedale Pediatrico Bambino Gesù

ITALY

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Antonio Lanatà

Professor

University of Florence

ITALY

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CLAUDIA MANFREDI

Associate Professor

Università degli Studi di Napoli Federico II

ITALY

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Lorenzo Frassineti

Adjunct Professor - Biomedical Signal Processing course. ING-INF/06, Second cycle degree Biomedical Engineering.

University of Florence

ITALY

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Roberta Onesimo

Research Interests

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Articles (10)

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1

The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome

Validation and cross‐cultural adaptation of the Italian version of the paediatric eating assessment tool (I‐PEDI‐EAT‐10) in genetic syndromes

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature

Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review

Collaborators (5)

ELISABETTA SFORZA

Marco Tartaglia

Antonio Lanatà

CLAUDIA MANFREDI

Lorenzo Frassineti

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