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Manuela Priolo

8PUBLICATIONS

27CO-AUTHORS

Gene mappingNeurogeneticsTe mātai huingaira o te Māori (Māori genomics)Te Whāriki - te mātauranga kōhungahunga Māori (Māori early childhood education)Medical infection agents (incl. prions)

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Publications (8)

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|Oct 29, 2025

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.

Cecilia Mancini, Luigi Chiriatti, Alessandro Bruselles

|Feb 26, 2025

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

Luigi Chiriatti, Manuela Priolo, Roberta Onesimo

|Feb 26, 2025

Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.

Niccolò Butti, Cosimo Urgesi, Paolo Alfieri

|Jul 29, 2024

Natural history in Malan syndrome: survey of 28 adults and literature review.

T N Huynh, C G Delagrammatikas, L Chiriatti

|Apr 14, 2023

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Manuela Priolo, Erika Zara, Francesca Clementina Radio

|Mar 11, 2023

The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.

Manuela Priolo, Marco Tartaglia

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Frequent Collaborators

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Marco Tartaglia

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Marcello Niceta

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Francesca Clementina Radio

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Paolo Alfieri

2 joint publications

Marco Seri

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Andrea Ciolfi

2 joint publications

Mattia Carvetta

1 joint publications

Martina Collotta

1 joint publications

Federica Alice Maria Montanaro

1 joint publications

Francesca Cumbo

Frequent Collaborators

6 joint publications

Marco Tartaglia

4 joint publications

Marcello Niceta

4 joint publications

Francesca Clementina Radio

2 joint publications

Paolo Alfieri

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