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Chiara Leoni

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MD, PhD

Agostino Gemelli University Polyclinic

Italy

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Professors in Italy Professors in Neuropsychology Neuropsychology professors in Italy

Recent Grants

Grant: Close

Pain in RASopathies: new investigative techniques and possible treatments

Open Date: 2020-10-01

Close Date: 2025-06-01

Articles (20)

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Collaborators (14)

Laura Crisponi

Head of Research

Consiglio Nazionale delle Ricerche

ITALY

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Nicoletta Resta

Full Professor Medical Genetics

University of Bari Aldo Moro

ITALY

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ELISABETTA SFORZA

Università Cattolica del Sacro Cuore

ITALY

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Luigi Napolitano

Università degli Studi di Napoli Federico II

ITALY

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Filippo Marino

Policlinico Universitario Agostino Gemelli

ITALY

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Luigi Boccuto

UNITED STATES

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Marco Tartaglia

Head

Ospedale Pediatrico Bambino Gesù

ITALY

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Roberto Iacovelli

Policlinico Universitario Agostino Gemelli

ITALY

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Alessandro Mussa

Deputy Director, Director for Research

Università degli Studi di Torino

ITALY

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Antonio Lanatà

Professor

University of Florence

ITALY

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Giuseppe Zampino

Associate professor

Policlinico Universitario Agostino Gemelli

ITALY

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Roberta Onesimo

Agostino Gemelli University Polyclinic

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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Chiara Leoni

Research Interests

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Recent Grants

Articles (20)

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome

Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant

UBTF Haploinsufficiency‐Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype

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

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype

Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia

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

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis 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

Relationship Between Loss of Y Chromosome and Urologic Cancers: New Future Perspectives

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Work-Up and Treatment Strategies for Individuals with <i>PIK3CA</i>-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association

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

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

Collaborators (14)

Laura Crisponi

Nicoletta Resta

ELISABETTA SFORZA

Luigi Napolitano

Filippo Marino

Luigi Boccuto

Marco Tartaglia

Roberto Iacovelli

Alessandro Mussa

Antonio Lanatà

Giuseppe Zampino

Roberta Onesimo

CLAUDIA MANFREDI

Lorenzo Frassineti

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